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Flashcards in Principles of Genetic Inheritance Deck (14):
1

Chromatid

two=chromosome

2

describe mosaicism

cells from a pt have different genotypes
-Down, Klinefelter, Turner syndromes

3

Lyonization?

X-inactivation

4

define non-disjunction

failure of one or more pairs of homologous chromosomes or sister chromatids to separate normally during division

5

define acrocentric

centromere is near one end of chromosome

6

Describe Robertsonian translocation

rare form of chromosomal rearrangement that, in humans, generally occurs in the five acrocentric chromosome pairs, namely 13, 14, 15, 21 and 22

7

Describe genomic imprinting

methylation=down regulation

8

describe uniparental disomy

a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copy from the other parent.[1] UPD can be the result of heterodisomy, in which a pair of non-identical chromosomes are inherited from one parent (an earlier stage meiosis I error) or isodisomy, in which a single chromosome from one parent is duplicated

9

Describe lyonization

x is inactivated in individuals with two x chromosomes;
inactivation is random from cell to cell often

10

define proband

the first diagnosed individual in a pedigree

11

define penetrance

how frequently a gene manifests itself

12

What does the independence principle dictate:

if two probabilities are independent then you can use the multiplication and addition rule

13

What is disease prevalence data?

how many carriers in a population

14

Define consaguineous

cousin matings are mare likely to produce rare autosomal recessive disorders (everyone likely carrier of 1-5 recessive mutations)