title: [Analysis of an AZFc deletion family with natural transmission].
abstract: 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.
authors.affiliation: 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
authors.forename: Xin-Yi
authors.initials: XY
authors.lastname: Xia
authors.forename: Ying-Xia
authors.initials: YX
authors.lastname: Cui
authors.forename: Lian-Jun
authors.initials: LJ
authors.lastname: Pan
authors.forename: Li-Jun
authors.initials: LJ
authors.lastname: Hao
authors.forename: Bao-Fang
authors.initials: BF
authors.lastname: Jin
authors.forename: Yong-Ming
authors.initials: YM
authors.lastname: Wu
authors.forename: Yu-Feng
authors.initials: YF
authors.lastname: Huang
authors.forename: Xiu-Lai
authors.initials: XL
authors.lastname: Wang
mesh_terms: 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
chemical_list: C101358:DAZL protein, human; D016601:RNA-Binding Proteins; D029589:Seminal Plasma Proteins