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Flashcards in W7 Genetic Tools Deck (26)
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1
Q

Polymorphic chromosomal markers

A

any mark (usually sequence) that helps us determine whether or not an individual carries a disease gene

2
Q

Most genetic polymorphisms are pathological/benign

A

benign

3
Q

Biomarkers

A

DNA sequences usually found with diseased gene

are not genetic mutation themselves

4
Q

Restriction fragment length polymorphism

A

biomarker acts as restriction endonuclease recognition site

5
Q

This type of modifiction may both endonuclease binding

A

methylation

6
Q

Variable number of tandem repeats (VNTR)

A

PCR analysis

size of fragments can tell where chromosome came from/act as biomarker

7
Q

Haplotypes

A

Haploid genotypes

haplotype blocks are a large set of SNPs that are found in certain populations

haplotype maps are constructed from populations

haplogroups are used to trace ancestry

8
Q

Prader-Willi syndrome

A

Maternally imprinted gene on chromosome 17

Found next to Angelman syndrome gene

9
Q

Angelman syndrome

A

paternally imprinted gene on chromosome 17

next to Prader-Willi syndrome gene

10
Q

Clinical cytogenetics

A

study of chromosome structure

11
Q

Karyotyping

A

looking at number and mophological features of set of chromosomes

12
Q

Angelman Syndrome

A

Paternally imprinted

Maternal deletion–>Angelman

13
Q

Prader-Willi Syndrome

A

Maternally imprinted

Paternal deletion–>Prader-Willi

14
Q

How can the Prader-Willi gene be deleted without producing the PW phenotype?

A

PW is maternally imprinted, so if the maternal gene (imprinted) is deleted, it will not make a phenotypic difference

15
Q

What does the Prader-Willi gene encode?

A

long noncoding RNA

16
Q

What is the risk of trisomy 21 reoccurance?

A

8x greater (1/800 –> 1/100)

17
Q

Single X

A

Turner syndrome (females)

18
Q

Male extra X

A

Klinefelter Syndrome

19
Q

Amniocentesis

A

amniotic fluid removed transabdominally

20
Q

Cordocentesis

A

from umbilical cord

21
Q

Chorionic villus sampling

A

4-5 weeks before amniocentesis is possible

22
Q

Trisomy 21 serum values (trimester 1)

Nuchal translucency

PAPP-A

Free β-hCG

A

Nuchal translucency: high

PAPP-A: low

Free β-hCG: high

23
Q

Trisomy 21 serum values (trimester 1)

Nuchal translucency

PAPP-A

Free β-hCG

A

Free β-hCG: high

Inhibin A: high

24
Q

Neural Tube Defect Test

A

Second trimester

High AFP (not trisomy 21)

25
Q

How to detect Duchene’s Muscular Dystrophy carriers

A

serum creatine kinase (elevated)

26
Q
A