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© Research
Publication : Journal of medical genetics

Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Journal of medical genetics - 01 Nov 2004

Machev N, Saut N, Longepied G, Terriou P, Navarro A, Levy N, Guichaoua M, Metzler-Guillemain C, Collignon P, Frances AM, Belougne J, Clemente E, Chiaroni J, Chevillard C, Durand C, Ducourneau A, Pech N, McElreavey K, Mattei MG, Mitchell MJ

Link to Pubmed [PMID] – 15520406

J. Med. Genet. 2004 Nov;41(11):814-25

Complete deletion of the complete AZFc interval of the Y chromosome is the most common known genetic cause of human male infertility. Two partial AZFc deletions (gr/gr and b1/b3) that remove some copies of all AZFc genes have recently been identified in infertile and fertile populations, and an association study indicates that the resulting gene dose reduction represents a risk factor for spermatogenic failure.

http://www.ncbi.nlm.nih.gov/pubmed/15520406