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Genetix C1V2

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Section 1

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Xlinked recessive

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Last updated

6 years ago

Date created

Mar 14, 2020

Cards (11)

Section 1

(11 cards)

Xlinked recessive

Front

What is dystrophine gene mutation caused by? (muscle fiber cytoskeleton adhesion)

Back

allelic heterogenity

Front

Mutations on both alleles in CFTR gene, explaination?

Back

genetic heterogenity

Front

Situation when mutations in different genes can cause one disorder is?

Back

hereditary hemachromatosis, cystic fibrosis, phenylketonuria

Front

Autosomal recessive disorders are?

Back

a birth defect, abnormal growth of chest (caved in)

Front

What is pectus excavatum?

Back

genetic heterogenity

Front

Both parents have AR deafness. What does healthy child mean?

Back

variable expressivity

Front

Mutations in FBN1 encodes protein fibrillin, which monogenic inheritance analysis difficulties?

Back

function loss mutation

Front

Hereditary haemochromatosis is caused by?

Back

affects all but more severely males, gene at 1st chromosome

Front

Hemophilia B is characterized by all EXCEPT?

Back

1:2000-4000

Front

Incidence of cystic fibrosis in Latvia is?

Back

compound heterozygosity, allelic heterogenity

Front

one has phenylketonuria and 2 mutations in PAH gene, what is this an example of?

Back