Sgu Genetics

Front 1

Huntington's Disease

Back 1

Autosomal Dominant, triplet repeat expansion disorder in coding region, worse as more expanded (Anticipation), delayed onset at 40 years. CAG repeats. Polyglutamate.

Front 2

Achondroplasia

Back 2

Autosomal Dominant, FGFR3 gene, prone to germline mosaicism (gonadal mutation)

Front 3

Retinoblastoma

Back 3

Autosomal Dominant, 90% Penetrance, RB1 gene, Tumor suppressor gene, Two hit mutation to cause disease.

Front 4

Familial Hypercholesterolemia

Back 4

Autosomal Dominant, haploinsufficiency.

Front 5

Myotonic Dystrophy

Back 5

Autosomal Dominant, variable expression, triplet repeat expansion disorder in NON-coding region, worse as more expanded (Anticipation). CTG repeats.

Front 6

Marfan Syndrome

Back 6

Autosomal Dominant, variable expression, pleiotropy as well, fibrin mutation.

Front 7

Osteogenesis Imperfecta

Back 7

Autosomal Dominant, variable expression, (prone to gonadal mosaicism), blue sclera, multiple childhood fractures.

Front 8

Neurofibromatosis Type 1

Back 8

Autosomal Dominant, mutation in tumor suppressor gene Neurofibromin, small, soft, benign skin growths. 100% penetrance. Some cases of epilepsy and CNS tumors. 50% caused by new mutations.

Front 9

Acute Intermittent Porphyria

Back 9

Autosomal Dominant, heme synthesis enzyme mutation

Front 10

Tuberous Sclerosis

Back 10

Autosomal Dominant, Pleiotropy, causing several different problems.

Front 11

Hereditary Hemochromatosis

Back 11

Autosomal Recessive, incomplete penetrance, delayed onset

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Cystic Fibrosis

Back 12

Autosomal Recessive, CTFR gene for Chloride channel TM protein. Most cases are F508 mutation, can scan for this, but there are many many other mutations that can cause CF, long arm of Chromosome 7. (Displays Cholera resistance). Use ASO to scan for this.

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Tay Sachs

Back 13

Autosomal Recessive, Caused by frameshift mutation, insertion of 4 bases. Hexosaminidase A. more common among Ashkenazi Jews. 4 base insertion into Hexosaminidase A gene. Accumulation of gangliosides. Allelic Heterogeniety (several mutations can cause this, frameshift is most common).

Front 14

Phenylketonuria (PKU)

Back 14

Autosomal Recessive, more common in Irish and Scottish

Front 15

Xeroderma Pigmentosum

Back 15

Autosomal Recessive, defect in DNA nucleotide excision repair (NEC) mechanism. Suceptible to Melanoma. Light sensitive, skin rashes. there is a substitution in a base for the XPA gene (common with Japanese). In the USA, mutations in the XPC Helicase is more common. An increase in sister chromatid exchange is seen in these patients after UV exposure.

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a-B-Thalassemia

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Autosomal Recessive, Arab, Medeitteranean, Asian more common. (Plasmodium Falciparum Resistance) a-Thalassemia Can be splice site mutations. A) loss of splice site, intron added to protein. B) NEW splice site, part of exon lost from protein. Both non-functional.

Front 17

Sickle Cell Anemia

Back 17

Autosomal Recessive, HBB gene, (Plasmodium Falciparum Resistance) Missense mutation (Glutamine to a Valine). In B6 b-globulin gene. Causes Anemia and RBC clumping due to poor solubility of HbS. Causes infarctions widespread out the body, and Splenomegaly. Missense Mutation in b-globulin gene B6, causing Glu to a Val, causing poor solubility of the HbS protein. Causes Ishemia by RBC clumping and anemia due to destruction of RBCs in the spleen.

Front 18

Bloom Syndrome (Congenital Telangiectasia)

Back 18

Autosomal Recessive, Due to BLM Helicase gene mutation, due to lots of recombination. Growth deficiency, pigmentation, photosensitivity, erythema (skin telanglectasia), cancer suceptible.

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Ataxia Telegiectaxia (ATM)

Back 19

Autosomal Recessive. ATM initiates repair due to DS breaks. Related to ATR, which repsonds to Hypoxia, UV damage, replication damage. Causes increase in cancer susceptibility, due to lack of repair. Lympomas, tumors, sensitive to radiation.

Front 20

Duchenne Muscular Dystrophy (DMD)

Back 20

X-linked Recessive, DMD gene, can be mild symptoms in females due to uneven X-inactivation (lyonization)

Front 21

Fragile X Syndrome

Back 21

X-linked Dominant, Anticipation (repeat expansion in the mother). CGG repeat causes Methylation of the FMR-1 Gene

Front 22

Hemophelia A/B

Back 22

X-linked Recessive, FVIII gene, lyonization

Front 23

G6P Deficiency

Back 23

X-linked Recessive, malarial resistence, Plasmodium Falciparum Resistance (Malaria)

Front 24

Incontinetia Pigmenti

Back 24

X-linked Dominant, so all sons have it and only mothers pass it. Females will get it with mosaicism.

Front 25

Vitamin D resistent Ricketts

Back 25

X-linked Dominant

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Charcot Marie Tooth Diesease

Back 26

.

Front 27

SRY Gene, H-Y hisocompatibility antigen

Back 27

Y-linked

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Night Blindness

Back 28

Heterogenetity, Autosomal Recessivity. Need Both genes, ROM1 and Peripherin degenerate rods to get this.

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Mitochondrial Diseases

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Passed by the mother's Gametocytes via mitosis, will appear in every child from that affected mother. Variability, Penetrance, Plieotropy.

Front 30

LHON (Leber's Hereditary Optic Neuropathy)

Back 30

ND4 gene, blindness, Mitochondrial Mutation

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MELAS

Back 31

Mutation in Mitochondrial DNA, Mitochondrial Enchepalopathy, Lactic Acidosis, and Stroke-Episodes. Ragged Red Fibers in muscle. tRNA leuUUR gene is responsible. Several point mutations. May be due to heteroplasmy, explaining variability in individuals. Also takes some time to develop enough mutant mitochondria, so develops later.

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Angelman's

Back 32

Imprinting, Methylation of the Chromosome 15q11-q13 in the Father, Mutation in the Maternal UBE3A Genes.

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Prader Willi

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Imprinting, Methylation of the Chromosome 15q11-q13 in the Mother, Mutation in the Paternal SNRPN Genes

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Down Syndrome (47, XX, +21)

Back 34

Wide, slanting forehead (brachycephaly), single simeon crease on hands (Clinodactyly), GI abnormalities, Mental Retardation, Brushfield spots on iris, adult cataracts. Trisomy 21, Nondisjunction in Meiosis I or II, OR ADJACENT 14-21 Robertsonian Reciprocal Translocation, two satellite chromoesomes join together. Translocation can end up with 3 copies of chromosome 21. (47, XX, +21)

Front 35

Patau Syndrome (47, XX, +13)

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Trisomy 13. Cleft Lip, polydactyly, Microthalmia, mental retardation, lethal heart defects, fatal. Can detect Polydactytly on Ultrasound.

Front 36

Edward's Syndrome (47, XX, +18)

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Trisomy 18. Rockerbottom Feet, Clinched hands, Congenital heart defects, Fatal. Can see Rockerbottom feet on ultrasound, clinched hands, also Exomphalos.

Front 37

Klinefelter's Syndrome (47, XXY)

Back 37

XXY, girly, trisomy, velvet breasts, tall, osteoporosis, testicular atrophy, extra X is inactivated, but causes symptoms since not all genes are inactivated. Low sperm count. There is a bar body in these Males!!!

Front 38

Turner's Syndrome (45, X0), may be Mosaic (46, XX), 47(XXX)

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X, monosomy. Webbed neck, short. Overweight, wide nipples, broad chest, infertile. Ammenorhea (no menstruation). No bar body in females in (45, X) cells with Turners!!

Front 39

Cru du Chat Syndrome

Back 39

difficulty, swallowing, mental retardation, microcephaly, high pitched catlike cry, caused by DELETION on Chromosome 5p15.2

Front 40

Familial Breast/ovarian cancer

Back 40

Mutations in BRCA1 and BRCA2 cause breast cancer susception, causing faulty HRR. Has delayed onset

Front 41

Colorectal Cancer

Back 41

MYH Polyposis (colon cancer) disrupts Base excision repair, and HNPCC due to mutations in MLH1 on Chromosome 2, or MSH2 on Chromosome 3. Disrupts MMR (mismatch repair)

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Diabetes Mellitus Type 1

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Mutigenic in 99% of cases. Less than 100% concordance in twins. Environmental AND genetic. More than 20 genes involved.

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Diabetes Mellitus Type 2

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early onset cases had 50% condordance in twins before age 45, and no diabetic parents. highly environmental. 100% concordance after age 45, with half having a diabetic parent. So 100% genetic for delayed onset.

Front 44

Alzheimer's Disease

Back 44

Can be a Promoter mutation, increaing the amyloid precursor protein synthesis. Causes plaques. Dementia, B-amyloid protein mis folding and aggregation due to insolubility. Familial and Sporadic. Familial is < 10%. ALL are early onset <65years. Dominant inheritance. Sporadic, associates with APOE4 Gene on Chr. 19, 25% population is heterozygoing for mutant gene (4X increased risk, 10X in homozygous (2% pop)). Aluminum exposure supposed increase in likelyhood.

Front 45

Hemophelia B

Back 45

clotting factor 9 mutation, promoter mutation, severe deficiency in IX until pubery, when androgens upregulate the synthesis.

Front 46

Retinoblastoma

Back 46

RB1 gene is a tumor suppressor gene. TWO HIT hypothesis. Both copies of the gene must be mutated for a phenotypic mutation.

Front 47

X-inactivation

Back 47

XIST Gene involved in this process. In female, or kleinfelter's males, where more than one X chromosome exists, during Embryo development, X-inactivation occurs, where one X-chromosome is mostly, but not completely inactivated. It can be seen in cells as a Bar Body remnant. It can be mosiac in which X is inactivated.

Front 48

Heteroplasmy

Back 48

Mixed mitochondrial genes, some mutant, some normal. Explains variability in mitochondrial diseases.

Front 49

Homoplasmy

Back 49

Either both normal, or both mutated genes.

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Anupliody

Back 50

Single genes are altered

Front 51

Euploidy

Back 51

Whole chromosomes are altered, added or deleted

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Polyploidy

Back 52

Whole genome altered, (ex. 3 copies of every chromosome).

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Digynic Polyploidy

Back 53

Non-Molar placenta. Two sets of maternal chromosomes. ("Di-gina, two ginas.")

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Diandric Polyploidy

Back 54

Molar. Two sets of Paternal chromosomes. ("Di-andy, two Andy's")

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Trisomy, Tetrasomy, Monosomy, Disomy

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3 copies of a chromosome, 4 copies, 1 copy, 2 copies (normal)

Front 56

Heterodysomy

Back 56

Nondysjunction in Meiosis I, causing germline mosaicism. Causes 2 haploid cells with no copies, and 2 with 2 copies of the chromosome.

Front 57

Homodysomy

Back 57

Nondysjunction in Meiosis II, causing germline mosaicism. Causes 1 empty haploid cell and one with 2 copies of a chromosome, + 2 normal ones.

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Anticipation

Back 58

Refers to the repeat expansion diseases, huntingtons, myotonic dystrophy… the more expanded, the younger, and more severe the disease.

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Germline (gonadal) Mosaicism

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refers to mutations in the gamete cells by the parents, resulting in and explaining abnormal and variable diseases.

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Translocation

Back 60

The breakage and re-joining of parts of chromosomes. Can be balanced (functional), or unbalanced (dysfunctional)

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Robertsionian Translocation

Back 61

The long arms of two chromosomes join around a centromere, in place of small, satellite arms. Can result in 14/21 Downsyndrome, normal, or fatality.

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Alternate Segregation

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Robersonian translocation that results in BALANCED chromosomes, nonviable. Will result in Normal gametes.

Front 63

Adjacent Segregation

Back 63

Robersonian translocation that results in UNBALANCED chromosomes, nonviable, Carrier, or Down syndrome in the case of 14/21 R.trans

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Deletion

Back 64

Can result in Cru Du Chat syndrome, Ch5p15.2 DELETION. loss of genes.

Front 65

Inversions

Back 65

Removed, inverted, re-inserted genes. Can be pericentric or paracentric.

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Pericentric Inversion

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Balanced and unbalanced. Revolves around the centromere (included). Always has a centromere on the chromatids.

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Paracentric Inversion

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Balanced and unbalanced. WORSE. End up with two centromeres on a chromatid, and one with none, cell cant handle this.

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G banding

Back 68

detects 5Mb mutations

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FISH

Back 69

Detects 1.5Mb mutations, understand which mutations will be visible on the karyotype, and which need FISH. Needed for Williams Syndrome, Prader Willi, Angelman, Velocardiofacial Syndrome/Di George's

Front 70

Amniocentesis

Back 70

Amnoitic Fluid aspirated guided by Ultrasound, screened for a-fetoprotein. Can increase miscarraige by 1%. Can be done at 16 weeks.

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Chorionic Villus Sampling

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Remove fetal cells by aspiration from inner surface of placenta, increases possibility of misscarraige. Can be done at 11-12 weeks, sooner than amniocen.

Front 72

Polymorphisms

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mutations that do not cause a deleterious phenotype. Examples are G6P variants, a-1antitrypsin variants, ABO blood groups,

Front 73

SNP's (single nucleotide Polymorphisms)

Back 73

Often associated with adverse drug reactions

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STR's or VTNR's (Short Tandem Repeats)

Back 74

Very good marker for DNA fingerprinting using PCR, sequencing, restriction enzymes, Southern Blot Probing. Very variable between individuals, used for forensic fingerprinting. IMPORTANT: Can prove NOT the father with one loci better than is the father. Must use multiple loci to do this.

Front 75

Structural Variants

Back 75

Deletions, Inversion, dupilications. Most associated with human variability.

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Tautaumerism

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The incorporation of a wrong base

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Oxidative Damage to DNA

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Causes transversion, tautaumerism, damaged G's pair with A's, instead of C.

Front 78

DNA Pol

Back 78

Has 3'-5' exonuclease Proof Reading ability.

Front 79

Single Base Excision Repair

Back 79

ROS, Alkylation, Deamination, Abasic (depurination/pyrimidization), or single strand breaks due to energy. DNA glycosylates remove the wrong base. Example would be MYH Polyposis.

Front 80

XPA, XPF, XPG

Back 80

XPA is a helicase and holds nucleotide excision repair open, the others indicate snip sites to remove wrong nucleotide string. In Xeroderma Pigmentosum, there is a substitution in a base for the XPA gene (common with Japanese). In the USA, mutations in the XPC Helicase is more common.

Front 81

MMR (Mismatch Repair)

Back 81

Important post replication mechanism to fix Expansion repeats. MSH proteins recognize, MLH1/PMS2 recruit exonuclease. DNA Pol, adds bases which were removed.

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Hereditary Non-Polyposis Colorectal Cancer (HNPCC)

Back 82

Autosomal Dominant. Mutation in gene's for MLH1 on Chromosome 3, or MSH2 on Chromosome 2. (90%). Genetic Predisposition for cancer. Screen with colonscopy starting at age 25. Look for Microsatellite expansions, which will accumulate in those with this mutation. Mutation in MMR (mismatch repair)

Front 83

BLM Helicase

Back 83

Resolves Holiday junctions in Double strand Break, non-homologous end joining repair. (DSB, NHEJ). Also inhibits crossing of of sister chromatids.

Front 84

Bloom Syndrome (Congenital Telangiectasia)

Back 84

Autosomal Recessive, DNA Ligase mutation. Due to BLM Helicase gene mutation, due to lots of recombination. Growth deficiency, pigmentation, photosensitivity, erythema (skin telanglectasia), cancer suceptible.

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HRR (Homologous Recombination Repair)

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BRCA1promotes HR, and BRCA2 stimulates it. BLM helicase resolves the holiday junctions between adjacent chromatids. DNA pol fills in gaps. Uses

Front 86

Ataxia Telegiectaxia (ATM)

Back 86

Autosomal Recessive. Mutation in Topoisomerase ATM initiates repair due to DS breaks. Related to ATR, which repsonds to Hypoxia, UV damage, replication damage. Causes increase in cancer susceptibility, due to lack of repair. Lympomas, tumors, sensitive to radiation.

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MMR (Mismatch Repair)

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HNPCC (colon cancer, MLH1 or MSH2 genes)

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NHEJ, HRR (non-homologous end joining, homologous recombination repair)

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corrects double strand breaks, like Breast Cancer (BRCA1/2), or Bloom Syndrome (BLM)

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BER (Base excision repair)

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MYH Polyposis (colon cancer)

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NER (Nucleotide excision repair)

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Xeroderma Pigmentosum (XPA in japanese, XPC in USA).

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Haploinsufficiency

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Familiar Hypercholesterolemia, one mutation in LDL receptor, other gene cannot make up for it.

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Dominant-negative loss

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Osteogenesis Imperfecta, collagen 1A1 or 1A2, affects dimer/multimer protein, or protein interferes with normal proteins

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Gain of function

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Huntington's disease, overexpression of CNS proteins, neurological degeneration, usually dominant mutations.

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Silent Mutations

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Will not change Amino Acids (redundancy), BUT can add splice sites or affect splice enhancers!!

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Neutral Mutation

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Changes the amino acid, but same type (non-polar ex.) so no effect on protein.

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Missense Mutation

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Changes crucial amino acid in protein function. Can be complete loss, partial loss (hypomorph), gain in function (hypermorph), or change in function (neomorph). Sickle Cell Anemia (Glutamine to a Valine). In B6 b-globulin gene

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Nonsense Mutation

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mutation causes a Stop Codon.

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Frameshift

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insertion or deletion of bases, that arent multiples of 3. Tay Sach's disease caused by insertion of 4 bases.

Front 99

Genetic Testing Bad Idea

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Could onset after death, penetrance, allele heterogeneity (could be caused by other mutations), locus heterogeneity, (cant test for all mutations)

Front 100

Linkage Analaysis

Back 100

Testing for RFLP or SNP or VNTR nearby the mutation, which are commonly associated with the mutation, since it is in such close proximity. There IS a chance that recomination could separate the allele marker and the mutation, but the closer they are, the smaller this chance. Cystic Fibrosis uses this, theres 2 markers 10kb away from the mutation. this is an indirect method.

Front 101

ASO (Allele specific oligonucleotide Probes)

Back 101

Used for point mutations or short aberations

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Southern Blots

Back 102

Used for larger aberations. Fragile X is tested with this. You CAN test for CF (3 base deletion). Triplet repeats, like Fragile X and Huntington's needs this.

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FISH

Back 103

NEVER use FISH for CF. Used for chromosomal changes and large insertions, deletions.

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Proto-oncogenes

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molar. Two sets of Paternal chromosomes. ("Di-andy, two Andy's")

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Oncogenes

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a mutated proto-oncogene, V-onc is a viral oncogene, causing host cell to become cancerous, and C-onc, a cellular mutation, causing cancer. INCREASE in function genes. DOMINANT mutations.

Front 106

Myeloid Leukemia

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Translocation of ABL oncogene from Ch. 9 to Chr. 22. Causes a fusion of BRC and ABL proteins, which is permanenely active, overexpressive. Inhibits DNA repair and increases cell cycle.

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Burkitt Lymphoma

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Translocation of c-MYC gene from Chr.8 to Chr. 14. (90% of cases). Codes for Enhancer boxes, and recruiting histone acetyltransferases. (HAT's and E-boxes). MYC genes related to Cancer, as well as Growth Factors.

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Tumor Suppressor Genes

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creaetes a nucleus with 92 chromosomes, instead of 45. Can re-create cancer when cells lose chromosomes. Will not cause cancer, but will aide in worsening the cancer once it starts. LOSS of function genes. RECESSIVE mutation.Neurofibromatosis, Retinoblastoma RB1, P53 are examples.

Front 109

Retinoblastoma

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RB1 gene is a tumor suppressor gene. TWO HIT hypothesis. Both copies of the gene must be mutated for a phenotypic mutation.

Front 110

Familial Adenomatous Polyposis (FAP)

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APC gene on Chr. 5, tumor suppressor gene. Inherited Autosomal Dominant, alike to HNPCC. Requires a second hit mutation/deletion to cause the cancer.

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Multifactorial Diseases

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Genes at multiple loci, polygenic diseases. Cleft Lip, Diabetes, Autism, Schitzophrenia, Neural tube defects, depression, hypertension, cardiac defects. Alzheimerz, Diabetes, Obesity

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Liability Curves for Mutifactorial Disorder

Back 112

Way of explaining inheritance. Multiple factors, graph has a Threshold. The more factors contributing to possible inheritance (people affected, closeness, environmental, etc), the graph is shifted to the right towards the threshold. Above the threshold, the disease is seen in the dividual. Can be faulty, is predicative, not Absolute.

Front 113

Parents/Siblings

Back 113

share 1/2 of genes, also those with a carrier sibling has a 1/2 chance of being a carrier themselves.

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Grandparents, half siblings, cousins

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share 1/4 of genes

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1st cousins, Third degree family

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share 1/8 of genes

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2nd cousins

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share 1/32 of genes

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Sex Predisposition

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A particular sex may be more susceptible to a particular disorder, due to being more polygenic or other factors.

Front 118

Multifactorial Inheritance

Back 118

The square root of the population incidence of a multifactorial disease = risk of siblings/offspring of having the disease.

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Dizygotic Twins (DZ)

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Ferternal twins, share 50% of genes.

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Monozygotic Twins (MZ)

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Identical twins, share 100% of their genes. Nearing 100% concordance if disease is completely genetic, but less so if environmental factors are involved. Should be the same concordance with DZ if completely environmental disorder.

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Concondance

Back 121

The percentage that twins have the same disease. Testing Monozygotic concordance measures the genetics of the disease, testing the Dizygotic concordance measures the enviromental influence. Whichever percentage Is higher shows which factor contributes to the disease.

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Discordance

Back 122

Percentage that twins don't have the same disease.

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Heriditability

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Heritability = (Variance in DZ - Variance in MZ) / Variance in DZ . The proportion of variayion caused by genetic, rather than environmental factors. For a completeley genetic disorder. Should be variance - 1/variance. So, proportion of

Front 124

Relative Risk (RR)

Back 124

measures relative risk of getting a disease. The frequency that the individual may contract the disease if the individual has a particular marker for it. Taking in account environment, can predict increase in Risk for particular persons. Percentage of those with a predisposition (allele w/risk /total) : to those without the predisposition (alleles/total). Example was smoker/cancer : non-smoker/cancer = 5.8X more likely.

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Odds Ratio (OR)

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compares relative odds of occurance. Tells you how much more likely you are of having a disease if you have the allele, vs not having it. Disease w/allele / no disease : disease w/o allele / no disease.

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Modifier Genes

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Genes which, do not cause a disease, but once a disease is present, make the condition much worse/better.

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Idiopathic Chronic Pancreatitis

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10-40% have 2 mutations in the CFTR gene, but don't have Cystic Fibrosis, however These are modifier genes, since those with CF get a much more severe case because of this.

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Association Studies

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like Linkage analysis for multigenic diseases. Can find a common SNP or marker that is common amongst most combinations of the disease, but still is not a great tool for measuring heredity.

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Genotype Frequency

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P2, 2PQ, Q2

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Allele Frequency

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The number of alleles, out of total. Homozygous counts for two.

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Disease Incidence

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In an autosomal recesssive disorder, the disease incidence is q^2 (square root = allele frequency, then use p2 +2pq +q2). In X-linked Recessive, q=disease incidence in males. Female heterozygocity = q2

Front 132

MSS, a-fetoprotein

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16 weeks, high a-FP signifies neural tube defects example, spina bifida. Low a-FP signifies Down's syndrome.

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Triple Test (a-FP, un-estroil down, Gonadotropin UP

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16 weeks

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Ultrasound Timing

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18weeks, can see trisomy defects

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Amniocentesis Timing

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16 weeks

Front 136

Chorionic Villus Sampling Timing

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10-12 weeks

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Chronic Myelogenous Leukemia

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9-22 translocation. ABL - know this gene, Philidelphia Chromosome, proto-oncogene

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Burkit Lymphoma

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8-14 Translocation. c-MYC gene, BEC Polyposis

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FAP (Familial Acute Polyposis)

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APC gene on Chr. 5, tumor suppressor gene. Inherited Autosomal Dominant, alike to HNPCC. Requires a second hit mutation/deletion to cause the cancer.

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RAS Gene

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Oncogene, GTP signalling, causes cancer if mutated.