title: Copy number variation and microdeletions of the Y chromosome linked genes and loci across different categories of Indian infertile males.
abstract: We analyzed 34 azoospermic (AZ), 43 oligospermic (OS), and 40 infertile males with normal spermiogram (INS) together with 55 normal fertile males (NFM) from the Indian population. AZ showed more microdeletions in the AZFa and AZFb regions whereas oligospermic ones showed more microdeletions in the AZFc region. Frequency of the AZF partial deletions was higher in males with spermatogenic impairments than in INS. Significantly, SRY, DAZ and BPY2 genes showed copy number variation across different categories of the patients and much reduced copies of the DYZ1 repeat arrays compared to that in normal fertile males. Likewise, INS showed microdeletions, sequence and copy number variation of several Y linked genes and loci. In the context of infertility, STS deletions and copy number variations both were statistically significant (p = 0.001). Thus, semen samples used during in vitro fertilization (IVF) and assisted reproductive technology (ART) must be assessed for the microdeletions of AZFa, b and c regions in addition to the affected genes reported herein. Present study is envisaged to be useful for DNA based diagnosis of different categories of the infertile males lending support to genetic counseling to the couples aspiring to avail assisted reproductive technologies.
authors.affiliation: Molecular Genetics Laboratory, National Institute of Immunology, New Delhi-110067, India.
authors.forename: Anju
authors.initials: A
authors.lastname: Kumari
authors.affiliation: Molecular Genetics Laboratory, National Institute of Immunology, New Delhi-110067, India.
authors.forename: Sandeep Kumar
authors.initials: SK
authors.lastname: Yadav
authors.affiliation: Department of Reproductive Biomedicine, National Institute of Health and Family Welfare, New Delhi-110067, India.
authors.forename: Man Mohan
authors.initials: MM
authors.lastname: Misro
authors.affiliation: Centre for Diabetes and Endocrinology, JN Medical College and Hospital, Aligarh Muslim University, Aligarh, Uttar Pradesh-202002, India.
authors.forename: Jamal
authors.initials: J
authors.lastname: Ahmad
authors.affiliation: Molecular Genetics Laboratory, National Institute of Immunology, New Delhi-110067, India.
authors.forename: Sher
authors.initials: S
authors.lastname: Ali
mesh_terms: D053713:Azoospermia / Q000235:genetics; D002467:Cell Nucleus / Q000235:genetics; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D041322:Chromosomes, Human, Y / Q000235:genetics; D056915:DNA Copy Number Variations / Q000235:genetics*; D005260:Female; D056426:Genetic Loci; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007194:India; D007248:Infertility, Male / Q000235:genetics*; D007399:Interphase / Q000235:genetics; D008297:Male; D008677:Metaphase / Q000235:genetics; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction; D016324:Sequence Tagged Sites; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics*; D051876:Sex-Determining Region Y Protein / Q000235:genetics; D013094:Spermatozoa / Q000378:metabolism
chemical_list: C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein