Module 13 Flashcards
Which (one) of the following diseases is/are correctly classified as autosomal dominant?
Huntington and achondroplasia
Which (one) of the following modes of inheritance is/are compatible with the following statement?
An affected male and an affected female produce both affected and unaffected male and female children.
Autosomal dominant
Males are hemizygous for X-linked traits
True
What one word term is used in reference to the person that acts as a starting point for pedigree analysis, typically because they are affected by a genetic disease?
Proband
A mother is heterozygous for an X-linked recessive disease allele and she has children with a phenotypically-normal male. What proportion of the FEMALE children would be expected to show the disease phenotype?
0%
A father is heterozygous for an autosomal dominant disease. He has children with a female that is heterozygous for the same gene. What percentage of the children would be expected to be affected (i.e. show the disease phenotype)?
75%
Consider the case of X-linked dominant inheritance. What is/are possible genotypes of an affected female?
XAXa and XAXA
Affected
any person having a given disorder
Heterozygote
person possessing one copy of the mutated gene coding for a disorder.
Homozygote
person possessing two copies of the allele for a disorder
Carrier
Unaffected heterozygote
Autosomal dominant traits
affected children born to affected parent
both males and females equally
neither parent is affected, usually child isn’t either
does not skip generations
Autosomal dominant disorders
Achondroplasia, Huningtons, Marfans, Polydactyly
Autosomal recessive traits
Affected children born to unaffected parents
both male and female affected equally
children born to parents with common ancestry
skips one or more generations
Autosomal recessive disorders
Cystic fibrosis
