9.9 Single Gene Inheritance 1 and 2 Flashcards Preview

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Flashcards in 9.9 Single Gene Inheritance 1 and 2 Deck (39):
1

Tay-sachs disease is an example of what inheretence pattern?

autosomal recessive inheretence

2

in X-linked dominant inheretence, is a male is affected, what is the outcome of the daughter? 

The daughters would definitely be affected. They inheret the X from their father. 

3

autosomal dominance pattern of inheritance displays vertical inheritance, which means:

usually the phenotype appears in every generation

4

X-inactivation is a random event, so most females have the paternal X in ____ of their cells and maternal X in _____ of their cells. can this change?

half, half

yes, some females can have different proportions

5

neurofibromatosis shows _______ expression

variable

6

an all-or-none phenomenon. You either show features of the genotype or not at all. Even though they have the mutated gene, not everyone who has the gene gets the disease.

reduced penetrance

7

is there a gender bias in autosomal dominance pattern of inheritance?

no

8

in X-linked inheretence in general, can fathers pass on the disease to their sons?

NO

9

what type of inheretence pattern is this pedigree?

autosomal dominance pattern of inheritance

10

The position of a gene on a chromosome

locus

11

why do some females have milder or more severe phenotypes of X-linked diseases?

Lyon hypothesis - they have different proportion of active and in-active X-linked genes. 

12

what pattern of inheretence is this?

autosomal recessive

13

in autosomal recessive inheretence, the parents of an affected individual are usually _______

unaffected

14

in X-linked recessive inheretence, an affected father will make all of his daughters what?

carriers. all of them recieve the x* from their dad

15

the finding that females express only one allele of their X-linked genes, although they actually have two. Ensures that females do not produce twice the gene product. What is this called?

dosage compensation

16

When mutant genes produce effects on multiple organ systems and functions.

plieotropy

17

in autosomal recessive inheretence, is there a gender bias?

no

18

BRCA1 mutation causes cancer in 80% of people with the genotype, while 20% of people with the genotype do not get cancer. what is this called?

reduced penetrance

19

individuals with the same geneotype have different phenotypes. Differences in location, size, number of neurofibromas for example in neurofibromatosis. Range of signs and symptoms.

variable expression

20

what can help explain variable expression in females?

the Lyon hypothesis

21

neurofibromatosis shows which type of inheretence?

autosomal dominance pattern of inheritance

22

1 allele at a locus

hemizygote

23

autosomal dominance pattern of inheritance does/doesn't skip generations

doesn't

24

in female somatic cells, _____ X-chromosome is active

one

25

Duchenne muscular dystrophy is an example of what type of inheretence?

X-linked recessive inheretence

26

Marfan syndrome affects many different organ systems of the body. What is this called?

pleiotropy

27

when abnormal phenotype is caused by mutations at 2 or more separate loci. Same condition caused by mutation of different genes

locus heterogeneity

28

when the abnormal phenotype is caused by different mutations at the same gene (same locus) 

allelic hetergeneity

29

Alternative forms of the gene found at the same locus on homologous chromosomes.

allele

30

what type of inheretence pattern is this?

x-linked dominant

31

in female somatic cells, one X-chromosome is ______ and one is condensed and represented as the ____________ 

active

Barr body

32

the BRCA1 mutation shows what type of inheretence?

autosomal dominance pattern of inheritance

33

what type of genetic inheretence exhibits horizontal inheretence? what does this mean?

autosomal recessive inheretence

it means that affected individuals are usuallly seen in one sibship

34

in autosomal dominance pattern of inheritance, _____ affected people have an affected parent

all

35

Hemophilia A is an example of what pattern of inheretence?

X-linked recessive inheretence

36

Marfan syndrome shows what pattern of inheretence?

autosomal dominance pattern of inheritance

37

in autosomal dominance pattern of inheritance, _______ of the offspring of affected parents are affected

half

38

Tay-sachs disease is an example of a disease concentrated in ____________, such as the Ashkenazi jews

genetic isolates

39

what pattern of inheretence is this?

x-linked recessive