Expansion and de novo occurrence of Y chromosome microdeletions occurring via natural vertical transmission in northeastern China.
OBJECTIVE
To determine characteristics of classical and partial deletions of the Y chromosome azoospermia factor (AZF) region transmitted from father to son by natural fertilization.


METHODS
Patients from northeastern China with primary male infertility (n = 10) and their fathers were investigated. Healthy fertile men and women were recruited as positive and negative controls, respectively. The Y chromosome microdeletions were detected by polymerase chain reaction. Serum concentrations of reproductive hormones were determined by electrochemiluminescence immunoassay and enzyme-linked immunosorbent assay.


RESULTS
Expansions of microdeletions were observed in seven father–son pairs; de novo microdeletions were found in the remaining three father–son pairs. The Y chromosome microdeletions were larger in sons than in their fathers. Patients with infertility had significantly higher levels of follicle stimulating hormone and lower levels of inhibin B than fertile men.


CONCLUSIONS
The Y chromosome microdeletions were transmitted from father to son via natural transmission. These microdeletions may expand during transmission or arise de novo, possibly resulting in reduced fertility.
Department of Pathophysiology, Norman Bethune College of Medicine, Jilin University, Changchun, China.
R-L
RL
Dai
L-K
LK
Sun
X
X
Yang
L-L
LL
Li
H-B
HB
Zhu
R-Z
RZ
Liu
D000328:Adult; D001483:Base Sequence; D016022:Case-Control Studies; D002681:China; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D017931:DNA Primers; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D018014:Gene Transfer Techniques; D006728:Hormones / Q000097:blood; D006801:Humans; D007248:Infertility, Male / Q000235:genetics; D007621:Karyotyping; D008297:Male; D016133:Polymerase Chain Reaction
D017931:DNA Primers; D006728:Hormones