Biochemistry - Mendelian Inheritance I & Ii

Front 1

how many pairs of autosomes and pairs of sex chromosomes are present in a human somatic cell?

Back 1

22 pairs of autosomes and 1 pair of sex chromosomes = 46 total chromosomes

Front 2

how many autosomes and sex chromosomes are present in gametes?

Back 2

22 autosomes and 1 sex chromosome = 23 total chromosomes

Front 3

what are the 3 main classes of satellite DNA?

Back 3

alpha satellite, mini-satellite, micro-satellite

Front 4

what are the 2 major classes of dispersed repetitive DNA?

Back 4

SINE (short interspersed elements) and LINE (long interspersed elements)

Front 5

which type of cell division does mitosis represent? Meiosis I?

Back 5

equational division; reductional division

Front 6

does recombination between parental chromosome homologs take place during mitosis or meiosis?

Back 6

meiosis

Front 7

what is the name of the pairing of materal and paternal chromosomes during Metaphase I? what is the name for the maternal and paterinal chromosomes which fail to match up at metaphase I?

Back 7

a bivalent; univalents

Front 8

crossing over occurs between how many sister chromatids of homologous chromosomes?

Back 8

2

Front 9

what is Mendel's first law? Second law?

Back 9

the segregation of homologous genetic units; independent assortment

Front 10

what is the principal difference between mitosis and meiosis II?

Back 10

number of chromosomes; mitosis = 46, meiosis ii = 23

Front 11

why is meiosis II not considered strict genetially equational division?

Back 11

because crossing over during meiosis I results in chromosomes that are not identical so technically cells produced during meiosis are not identical

Front 12

at what point in the life of a male does spermatogenesis begin?

Back 12

at puberty

Front 13

what is the name for undifferentiated stem cells of the male germ line? Where are they abundant?

Back 13

spermatogonia; semiferous tubules

Front 14

what is the name for the cells which differentiate from spermatogonia and undergo meiotic divisions to become sperm?

Back 14

primary spermatocytes

Front 15

each diploid spermatocytes gives rise to how many sperm eventually? How long does it take to produce these sperm?

Back 15

4 haploid sperm; 70 days

Front 16

at which point does female egg synthesis begin?

Back 16

third month of prenatal development

Front 17

what is the name for undifferentiated stem cells of the female germ line?

Back 17

oogonia

Front 18

what is the name for the egg precurser cells that are differentiated from oogonia stem cells?

Back 18

primary oocytes

Front 19

at which point do primary oocytes stop meiosis? What is the name for this extended pause? When does it restart?

Back 19

prophase I; dictyotene; just before ovulation (following puberty)

Front 20

the first meiotic division of primary oocytes produces an ovum and which other small structure?

Back 20

first polar body

Front 21

when is the second polar body formed from the ovum?

Back 21

following ovum penetration with sperm

Front 22

how many functional gametes per oogonium are produced in females?

Back 22

1

Front 23

what is the name for different forms of a gene? What is the name for a different version of a gene that has no pathological/clinical significance?

Back 23

allele; polymorphism

Front 24

blood type is a type of allele or polymorphism?

Back 24

polymorphism

Front 25

what are three examples of DNA polymorphisms? Which is also known as a microsatellite repeat? Which results from variations in DNA sequence at specific restriction sites?

Back 25

Restriction Fragment Length Polymorphisms (RFLPs), variable number of tandem repeats (VNTR), and short tandem repeats (STRs); STR; RFLP

Front 26

in which formation are VNTRs arranged in the genome? What is the function of these sequences?

Back 26

head to tail; unknown

Front 27

what is the name for a disease which is the result of a mutation at a single gene?

Back 27

monogenic

Front 28

what is the name for the type of disease which results from increase or decrease in the copy number of whole chromosomes or chromosomal regions containing many genes?

Back 28

chromosomal

Front 29

what is the name for the type of disease which results from mutations in the mitochondrial DNA? Does this account for many diseases?

Back 29

mitochondrial; no

Front 30

what is the name for the type of disease which results from interplay of multiple genes and multiple environmental factors?

Back 30

multifactorial

Front 31

what is the name for the type of disease which results from a progressive series of genetic changes in cells (such as cancer)? Are these changes passed onto offspring?

Back 31

somatic; no

Front 32

in pedigrees, what is used to represent males? Females? Dead individuals? Affected individuals?

Back 32

squares; circles; slash thorugh shape; filled in

Front 33

what does a diamond represent in a pedigree?

Back 33

sex is unspecified or unknown (fetus also)

Front 34

an arrow in a pedigree represents what?

Back 34

the proband which his the individual who brought the family to medical attention

Front 35

in an autosomal dominant inheritance disease, on which type of chromosome is the mutation found? Does the mutation act dominantly or recessively? Do heterozygotes for the disease present clinically with the disease?

Back 35

autosomes; dominantly; yes

Front 36

what is unique about homozygotes for an autosomal dominant disease?

Back 36

for some diseases, they are much more severely affected than heterozygotes

Front 37

what are the 3 possible molecular/cellular effects of an autosomal dominant disease?

Back 37

dominant negative, toxic gain of function, or haploinsufficiency.

Front 38

does the phenotype of an autosomal dominant disease appear in every generation? Can it skip a generation?

Back 38

yes; no

Front 39

each child of an affected parent with an autosomal dominant disease has what percent chance of inheriting the disease?

Back 39

50%

Front 40

can unaffected family members of a person afflicted with an autosomal dominant disease transmit the phenotype to their children? Are males or females more likel to pass on the trait of an autosomal dominant disease?

Back 40

no; neither

Front 41

what is an example of an autosomal dominant disease?

Back 41

achondroplasia

Front 42

in a recessive autosomal disease, how many alleles for the disease gene must be defective?

Back 42

both

Front 43

what is normally responsible for recessive autosomal disease at the molecular level?

Back 43

loss of function of a gene via inactivation of the gene at the molecular level

Front 44

affected individuals of autosomal recessive diseases have parents that carry how many alleles for the gene?

Back 44

1 (heterozygous carriers)

Front 45

what is the term used to describe an individual with two different mutant alleles for a disease gene? Are these individuals usually affected with the disorder?

Back 45

compound heterozygote; yes

Front 46

is an autosomal recessive disease normally seen in multiple generations?

Back 46

no

Front 47

what is the recurrence risk for each progeny of two carriers of an autosomal recessive disease gene?

Back 47

25%

Front 48

are males or females more likely to be afflicted with an autosomal recessive disease?

Back 48

neither

Front 49

is an autosomal recessive phenotype more or less common with consanguinity?

Back 49

more

Front 50

what is an example of an autosomal recessive disease?

Back 50

cystic fibrosis

Front 51

inborn errors of metabolism are the result of which type of mutations on which type of gene?

Back 51

loss of function mutations in enzymes that catalyze biochemical processes of human metabolism

Front 52

most inborn errors of metabolism are inherited in which type of disease inheritance pattern?

Back 52

autosomal recessive

Front 53

what is an example of an inborn error of metabolism?

Back 53

phenylketonuria

Front 54

is the frequency of every disease idential in every population?

Back 54

no, frequency of many genetic diseases are different in different ethnic groups

Front 55

the frequency of alleles in a large population will increase or decrease in subsequent generations?

Back 55

stay the same

Front 56

why does p+q = 1 in the hardy weinberg equation?

Back 56

be there are only two alleles at the locus and the sum of their frequencies must equal 1

Front 57

why does P2 + 2pq + q2 = 1?

Back 57

because there are only 3 genotypes possible and the sum of their frequencies must equal 1

Front 58

for an autosomal dominant condition, the frequency 'p' of the mutant gene 'A' is small or large compared to the frequency 'q' of normal gene 'a'?

Back 58

smaller

Front 59

the frequency of the heterozygote for autosomal dominant disease is greater or smaller than the frequency of dominant homozygotes?

Back 59

larger

Front 60

in practice, how can a homozygote for an autosomal dominant disease be identified?

Back 60

both parents are affected with the disease and the homozygotes are usually more severaly affected than the heterozygotes

Front 61

what information would you need to calculate disease or carrier frequency for an autosomal recessive gene from Harvey-Weinberg?

Back 61

gene frequency

Front 62

which is the normal gene in autosomal dominant disease? In an autosomal dominant disease?

Back 62

a; A

Front 63

the disease gene frequency for an autosomal recessive gene can be calculated how?

Back 63

by taking the sqaure root of the frequency of the gene

Front 64

consanguinity is present most in which type of disease inheritance?

Back 64

autosomal recessive

Front 65

consanguinity increases or decreases the probability of a disease being passed to offspring?

Back 65

increases

Front 66

is consanguinity in diseased individuals normally higher or lower in populations with a recessive gene in high frequency?

Back 66

lower

Front 67

in co-dominant inheritance, which allele for a given gene is dominant?

Back 67

neither, they are both expressed and have an additive effect