Single Gene Disorders Flashcards Preview

biochem 2 > Single Gene Disorders > Flashcards

Flashcards in Single Gene Disorders Deck (51):
1

compound heterozygote

two defective alleles that are not identical

2

haplionsufficiency

half of the gene dosafe may not be enough for a cell to carry out its function

3

dominant negative effect

muation produces abonormal protein that competes with the wildtype.

4

what does dominant negative effect normally effect

structual

5

lack of backup

inactivation of both alleles of a cell cycle control protein

6

do mitochondrial gene defects follow mendelian rules of inheritance

no

7

recurrance risk

parents have 1 affected child, what is the risk that their next child will ahve it as well

8

coefficent of inbreeding

degree of homozygosity of ac hild

9

what is the coefficent of inbreeding for children of siblings

1/4

10

what is the coefficent of inbreeding for a child of first cousins

1/16

11

inborn errors of metabolism

class of autosomal recessibe disorders caused by defects in metabolic enzymes

12

when do acute IEMs start

neonatal

13

what do chronic IEMS arise from

defects in stoarge and metabolism of large molecules

14

what is the most prevent iEM

PKU

15

where is teh defect in PKU

chromsome 12

16

CF results from a defect where

chromsome 7

17

penetrance

number of people with the mutation that acually get the disease

18

expressibity

how strong a disease phenotype shows

19

huntington results from a muation where

chromsome 4

20

anticipation

the severity of the disease increases with the number of repoeats

21

mutation of achondroplasia

FGFR3 on chromsome 4

22

dominant forms of EDS are caused by waht

muations in collagen genes

23

type I EDS symptom

brittle bone, blue scleras.

24

what is type I EDS caused by

null muation in procollagen alpha1gene

25

what is type II EDS caused by

missense muation in glycon codons

26

phenotype of type II EDS

black sclerea, severe deformity of skeleton, lethal before 1 mon of age

27

what causes type III EDS

missense muation in glycine codons

28

sypmtoms of type III EDS

progressive skeletal deformity, brittle bone

29

cause of type IV EDS

missesne muation in glycine codons

30

symptom of type IV EDS

moderate bone defmtiy, predisposition to bone fraction

31

heterozygote of familial hypercholestermia

elevate serum level of lipoprotein in serum (twice as high)

32

homozygote of familial hypercholestermia

elevated serum lele of lipoprotein(4 times as high)

33

loss of function muation in RET gene causes waht

hirschsprung disease

34

gain of function muation in RET gene causes what

multiple endocrine neoplasia

35

what is the milder varient of muscular dystrophy

becker

36

how are X linked dominatnt diseases transmitted

affected female transmits to half of her kids

37

how many genes does mitochondrial DNA encode

13

38

where are most genes for mitochondrial proteins found

in nucleus

39

what is the most prevalane tmitochondrial disorder

LHON

40

mode of inherance of achondroplasia

AD

41

mode of inherance of CF

AR

42

mode of inherance of EDS

AR and AD

43

mode of inherence of familial hyperchoelstermia

AD

44

mode of inherence of fructose 16 bisphophate defiency

AR

45

mode of inherence of glucose 6 phosphate dehydrogenase defncy

XR

46

mode of inherence of Huntington

AD

47

mode of inherence of neurofibrotosis

AD

48

mode of inherence of osteogenesis imperfect

AD

49

mode of inherence of PKU

AR

50

mode of inherence of sickle cell

AR

51

mode of inherence of sucrase-isomalatase defency

AR