Y-linked Inheritance (Holandric Inheritance)

Question 1

The inheritance of the ____ provides an example of Y – linked inheritance.

Answer 1

sex - determining region Y
(SRY)/testis determining factor (TDF )

Question 2

Mutations in the SRY gene at Yp11.3 can result in XY females with ____.

Answer 2

gonadal dysgenesis (one type of Swyer syndrome)

Question 3

Individuals with mutations in the SRY gene at ___ appear to be normal females at birth but at puberty fail to develop secondary sexual characteristics, do not menstruate and have streak gonads.

Answer 3

Yp11.3 leading to gonadal dysgenesis

Question 4

Other human examples of Y - linked diseases are rare, but include submicroscopic Yq11 deletions at the ____, w/c can result in severe oligospermia & male infertility.

Answer 4

Azoospermia Factor regions (AZFa, AZFb and, most commonly, AZFc)

Question 5

The AZFc region contains the ____ genes, w/c encode highly conserved RNA - binding proteins that are essential for normal spermatogenesis & probably regulate the translation of target gene mRNAs.

Answer 5

deleted in azoospermia (DAZ)

Question 6

_____ followed by _____ can be particularly helpful for this & other causes of male subfertility, although it can permit the transmission of a genetic abnormality to the offspring.

Answer 6

Testicular aspiration of sperm; intracytoplasmic sperm injection (ICSI)