Autosomal Recessive Disorders Flashcards Preview

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Flashcards in Autosomal Recessive Disorders Deck (66)
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1

Compound heterozygote

one who carries two different mutant alleles of the same gene.

1

Individuals with the Z/Z genotype have only ____ α1-AT activity and account for most cases of the disease.

10-15% of normal

1

ATD treatment?

delivering human SERPINA1 to the pulmonary epithelium

2

Most PKU cases are caused by defects in the _____ encoding phenylalanine hydroxylase.

PAH gene

3

ATD carrier frequency?

~1/25

3

____, relevant to ATD, is made in the liver and secreted into plasma.

α1-antitrypsin (ATT or SERPINA1)

3

The β subunit gene HEXB resides on chromosome ___.

5

4

Most PKU patients are ____ (i.e. having two different mutant alleles of the PAH gene).

compound heterozygotes

4

ATD

α1-Antitrypsin Deficiency

5

What is the frequency of T-S in the general population?

1/360,000

6

HexA is a heterodimer of ___, which are encoded by the HEXA and HEXB genes, respectively.

αβ

7

Phenylketonuria (PKU) phenotype

Microcephaly; possible profound mental retardation;. seizures, tremors, and gait disorders

7

Most ATD diseases are associated with two mutant alleles, the ___ and ___ alleles.

Z and S

8

findings in PKU: urine and sweat

High levels of phenylalanine metabolites and "mousy" odor

8

Elastase can destroy the connective tissue proteins (particularly elastin) of the lung, causing _____ and ______.

alveolar wall damage; emphysema

9

Other high-risk groups for T-S are ____, _____, and _____.

certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of Louisiana

11

What does T-S disease destroy?

neurons in the brain and spinal cord

11

Although HexA is a ubiquitous enzyme, the impact of T-S is primarily in the ____ where most of GM2 ganglioside is synthesized.

brain

12

Allelic heterogeneity

the existence of multiple mutant alleles of a single gene

13

PKU carrier frequency

1/50

13

α1-antitrypsin (ATT or SERPINA1) is made in the ____ and secreted into ____.

liver; plasma

15

plasma findings in PKU

High phenylalanine and low tyrosine levels

15

What is the frequency of T-S in the Ashkenazic Jewish population?

1/3600

16

_____ patients have defects in both Hexosaminidase A and Hexosaminidase B (HexB).

Sandhoff disease

18

Sandhoff disease is caused by a defective ___ subunit; both ____ and ____ activities are affected.

β; HexA and HexB

19

Although HexA is a ubiquitous enzyme, the impact of T-S is primarily in the brain where most of _____ is synthesized.

GM2 ganglioside

20

high-risk group

a population with higher-than-expected risk for a particular AR disease

20

_____ can destroy the connective tissue proteins (particularly elastin) of the lung, causing alveolar wall damage and emphysema.

Elastase

21

Elastase can destroy the ______ , causing alveolar wall damage and emphysema

connective tissue proteins (particularly elastin) of the lung

23

T-S

Tay-Sachs disease (GM2 gangliosidosis type I)