[Analysis of an AZFc deletion family with natural transmission].
OBJECTIVE
To report a rare family of AZFc deletion with natural transmission and explore the potential mechanism by which identical microdeletions cause different phenotypes.


METHODS
Chromosomal quantity and construction were detected by G-band, Y-chromosomal microdeletions by multiple PCR amplification for 12 sequence tagged sites (STSs, and the single-nucleotide polymorphisms (SNPs) of the DAZL gene, the autosomal homologue of deleted-in-azoospermia (DAZ) gene by DNA sequencing.


RESULTS
Chromosome analysis revealed a normal karyotype 46, XY in the father and both of his two sons and microdeletions of the full AZFc region were identical, including sY152, sY157, sY242, sY254, sY255, sY239 locus. However, the phenotypes of the affected patients were different: the father had normal fertility, but the sperm density of his two sons deteriorated age-dependently, and the younger one suffered from left cryptorchidism. SNP analysis demonstrated that two polymorphisms in exon 2 and 3 of the DAZL gene were identical in both the father and his sons.


CONCLUSIONS
Identical Y-chromosomal microdeletions causing different phenotypes in this family is not associated with the polymorphisms of DAZL gene and may be related to other genes or environmental factors.
Xia
Xin-Yi
XY
Department of Reproduction and Genetics, School of Clinical Medicine, Nanjing University Medical College, Nanjing General Hospital of Nanjing Command, Nanjing, Jiangsu 210002, China. xiaxy@androl.cn
Cui
Ying-Xia
YX
Pan
Lian-Jun
LJ
Hao
Li-Jun
LJ
Jin
Bao-Fang
BF
Wu
Yong-Ming
YM
Huang
Yu-Feng
YF
Wang
Xiu-Lai
XL
D000328:Adult; D000368:Aged; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D056426:Genetic Loci; D005838:Genotype; D006801:Humans; D008297:Male; D009679:Nuclear Family; D009845:Oligospermia / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D016601:RNA-Binding Proteins / Q000235:genetics; D029589:Seminal Plasma Proteins / Q000235:genetics*; D016324:Sequence Tagged Sites
C101358:DAZL protein, human; D016601:RNA-Binding Proteins; D029589:Seminal Plasma Proteins