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21 Cards in this Set
- Front
- Back
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AD
Recurrence risk, transmission pattern etc |
25%, horizontal. Disease phenotype seen in multiple siblings, parents not affected
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Y-linked heredity
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Holandric, SRY gene is inherited from father to sons, Y chromosome contains quite few genes = no known Y linked diseases
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Mitochindrial inheritance
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maternally inherited, only - to ALL her kids. Fathers can not pass it on.
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Mitochondrial diseases
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Some proteins with function in the mitochondria is coded by nuclear DNA, some proteins are complex with some part encoded by mitochondrial DNA and other by nuclear.
Mitochondrial DNA codes for enzymes of oxidative phosphorylation and other important complexes/reactions |
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Disorders with mitochondrial heredity
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MELAS - dementia, hearing loss, little growth
LHON - optic nerve degeneration |
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coefficient of relationship (r)
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the probability that two persons have inherited the same particular allele from a common ancestor.
r(1st cousins)= 1/8 |
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coefficient of inbreeding (F) what it is?
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the probability that a homozygote has received both allels of a pair from identical ancestral source.
AR = F*q (q=allele frquency in population) |
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How to calculate F
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F = S(0.5)^P+M
S= number of possible alleles for which person is homozygous, one common ancestor;S=2, two common;S=4 P+M = nnumber of generation from common ancestor |
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r for 1st, 2nd, 3rd 4th degree relatives
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1st (siblings, children+parent) 1/2
2nd (grandparents, uncles, aunts) 1/4 3rd (first cousins) 1/8 4th (second cousins) 1/32 |
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antigen receptors
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Ig; Lchain (kappa and lambda), Hchain (my, delta, gamma, epsilon, alpha)
T cell receptors; aplha (or delta), beta (or gamma) |
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Regions on antigen receptors
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V=variable (has binding site), C=constant, D=diversity, J=joining
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Genetic diversity in immunogenetics
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Genese are rearranged; in developing lymphocytes which is diffrent for every cell
Allelic exclusion; Each antibody (TCR) contains the combination of two chains (L+H, alpha+beta) |
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Morphogenetic processes
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Proliferation
distribution and migration integration reduction |
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Teratogenes1)generally cytotoxic 2) specific
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1) effect on proliferation
2) need receptors |
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Genome mutations
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changes in chromosomal number; 1) euploidy (multiplication of haploid NOT in embryos) 2) aneuploidy (additional chromosome, trisomy, or missing chromosome, monosomy)
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Aneuploidy
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Trisomy; 21 = downs, 18 = edwards, 13 = patau XXY = klinefelter
Monosomy = X0 turner |
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chromosome mutations
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structural chromosomal aberrations - breaks and exchanges of chromosomal segments
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gene mutations, definition
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qualitative or quantitative changes in DNA sequences
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gene mutation, types
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Missense; replacement of one AA
Nonsense; mutation generates one of three stop codons Elongation; change of stop codon into AA codon Frame shift; insertion deletion |
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Point mutation
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=Single nucleotide subsitution that alters a coding triplet, this may lead to inactive enzyme or changed spicificity
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Substitution mutation
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Sickle cell anemia; one nucleotide substituted changes the charge of the protein and thus its function
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