Chapter 3a - Extensions of Mendelian Inheritance: Sex-Linked Inheritance Flashcards
1
Q
inheritane of a trait that is determined by a gene located on one of the sex chromosomes (X and Y)
A
sex-linked inheritance
2
Q
X-linked inheritance
A
- X-linked dominant inheritance
- X-linked recessive inheritance
3
Q
- generally only manifests in males
- usual transmission is from mother to son
- affected male cannot transmit disorder to male offspring, but would only make carrier daughters
A
X-linked recessive inheritance
4
Q
example of X-linked recessive genes
A
- Red-green colorblindness
- hemophilia
- Lesch Nyhan Syndrome
- Androgen Insensitivity Syndrome
5
Q
- rare disorder X-linked
- inborn error metabolism of purine
- deficiency of enzyme
A
Lesch Nyhan Syndrome
6
Q
clinical features of people with Lesch Nyhan Syndrome
A
- mental retardation
- microcephaly
- seizures
- choreoathetosis
- spasticity
- gout
7
Q
involuntary movement of fingers
A
choreoathetosis
8
Q
rigid muscles
A
spasticity
9
Q
excessive uric acid in blood
A
gout
10
Q
occurs when someone is genetically male but is insensitive to androgens (male sex hormones)
A
Androgen insensitivity syndrome (AIS)
11
Q
- more common in female than males
- all daughters of affected father but none of his sons are affected
- heterozygous mother will pass the trait equally to half of sons and half of daughters
A
X-linked dominant inheritance
12
Q
example of X-linked dominant inherited diseases
A
Hypophosphatemic rickets
13
Q
- disorder of bone mineralization caused due to defects (inherited/acquired) in the renal handling of phosphorus
- does not result from vitamin D deficiency
- gene coding bone protein never receive vitamin D message to function
A
Hypophosphatemic rickets
14
Q
affect males only
A
Y-linked genes
15
Q
Y-linked genes are also known as
A
Holandric genes
