Principles of Genetic Inheritance Flashcards Preview

MCM Exam 2 > Principles of Genetic Inheritance > Flashcards

Flashcards in Principles of Genetic Inheritance Deck (55)
Loading flashcards...
1

Chromosomes common in both genders

Autosomes

2

This disease is a mitochondrial disease that affects many body systems, particularly brain and nervous system, and muscles. 

– Stroke and dementia – Lactic acidosis

 

Mitochondrial encephalomyopathy, lactic acidosis, and
stroke-like episodes (MELAS)

 

3

Example of X-linked Recessive Disease.

Duchenne Muscular Dysterophy

4

Turner Syndrome Characteristics

45, XO karyotype

Female (no Y)
Short stature

Ovarian hypofunction/premature Ovarian failure- require hormone therapy

Most are infertile

~30% webbed neck

Low hairline on neck

CV defects (coarctation of aorta, bicuspid aortic valve)

Normal intelligence

 

5

Is pyloric stenosis more common in men or women?

Men, they need less risk genes.

Children born of affected males are less likely to get it as well.

6

Probabilty rules

Multiply individual probabilities for "and"

Add for "or"

7

When environmental factors cause variation
in the trait, the term ______ is used 

Multifactorial

8

Process by which monosomy and trisomy occur.

Non-Disjunction

9

Meiosis reduces the total number of chromosomes by ___ producing ____ number of haploid gametes

1/2, 4

10

Order and nomenclature is divided into how many sections

Arm P / Q

Region 2 / 1

Band  1,2,2 / 1,2,3,4

Subbands 321,21,54321 / 3,123,1234.123

11

Describe the structure of mitochondrial DNA

16,569 bp, double stranded, circular

12

The frequency at which a gene manifest itself is called _____.

penetrance

13

Klinefelter Syndrom Characteristics

– Some with no/limited symptoms
– Varying degrees of cognitive, social,behavioral, learning difficulties

– Primary hypogonadism (low T)

– Small and/or undescended testes

– Gynecomastia

– Tall stature

– Infertility

– Can be mosaic

– Variability in X numbers can increase
symptoms (48, XXXY; 49, XXXXY)
47, XXY

 

14

Name the phases in order for mitosis

Interphase

Prophase

Prometaphase

Metaphase

Anaphase

Telophase

15

Phase of Mitosis at which one copy of each chromosome (chromatid) and 1/2 of cytoplasm/organelles are distributed between the two daughter cells

Cell Division

16

Law of Independent assortment in Mendelian Genetics

Genes are inherited independently of one another

17

What is Trisomy 21?

Downs syndrom (47, XX + 21)

Most common trisomy

Inreased risk with maternal age

Can also occur due to translocation 46, CU 

18

Multifactoral diseases that due not show a phenotypic bell curve have an underlying ________. In order for disease to become present they must pass the _________.

Liability distribution

Threshold of liability

19

X-Linked Dominant Disease

Very rare; No carriers

Hyophosphatemia

 

Low phosphorus in blood due to defective reabsorption of phosphate in kidney due

Deficient absorption of calcium in intestine causing sofenting of bone (Rickets)

Vitamin D metabolism abnormal

Short stature

 

 

20

How are genomic imprints passed down?

They're not!

Epigenetic imprints remain throughout the lifespan of somatic cells.

In germ cells, epigentic imprints are reset at each generation.

 

21

Normal number of chromosomes

Euploid

22

Paternal deletion of region of chromosome 15

Prader Willie Syndrome

Short stature, hypotonia, small
hands/feet, obesity, mild to moderate
intellectual disability

 

23

What makes multifactoral inheretance recurrent risk more likely?

Environmental factors

More then one family member affected

Expression is more severe

Less commonly affect proband is more likely to pass on

More related the parents = Higher chance

24

Disease example given for Reduced penetrance

Retinoblastoma

autosomal dominant inheritance

Phenotype occurs in 90% of individuals inheriting gene

25

Name the stages of meiosis in order

One round of DNA replication

two rounds of nuclear division

Prophase I => Metaphase I => Anaphase I => Telophase I => Metaphase II => Anaphase II

26

Disease example of Locus Heterogeneity.

OSTEOGENESIS IMPERFECTA

Brittle-bone disease – Mutations in collagen genes (two loci: chromosome 7 and 17), either mutation exhibits the same phenotype

 

 

27

Hardy Weinberg Principles

p2= AA

q2=aa

2pq= Aa

p + q = 1

28

Condition in which cells from a patient have different genotypes. List three examples of disease.

Mosaicism

Downs Syndrome

Klinefelter Syndrome

Turner Syndrome

29

What is the Down's Syndrome Karyotype?

Some 46XX, some 47XX, +21

30

What is Trisomy 18?

47, XX +18; Edwards Syndrome
– Abnormal development
– Most perinatal death within 1 year (10% of
live births survive to 10 y.0.)