title: A novel missense mutation C11994T in the mitochondrial ND4 gene as a cause of low sperm motility in the Indian subcontinent.
abstract: We have analyzed the mitochondrial DNA of 34 oligoasthenozoospermic men along with 150 normozoospermic fertile men from the Indian subcontinent. A novel missense mutation (C11994T) in the ND4 gene, which replaces threonine with isoleucine, was observed in all of the oligoasthenozoospermic men but not in any of the normozoospermic fertile men.
authors.affiliation: Centre for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Deepa
authors.initials: D
authors.lastname: Selvi Rani
authors.forename: Ayyasamy
authors.initials: A
authors.lastname: Vanniarajan
authors.forename: Nalini J
authors.initials: NJ
authors.lastname: Gupta
authors.forename: Baidyanath
authors.initials: B
authors.lastname: Chakravarty
authors.forename: Lalji
authors.initials: L
authors.lastname: Singh
authors.forename: Kumarasamy
authors.initials: K
authors.lastname: Thangaraj
mesh_terms: D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007194:India / Q000453:epidemiology; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D009245:NADH Dehydrogenase / Q000235:genetics*; D009845:Oligospermia / Q000453:epidemiology* / Q000235:genetics*; D015995:Prevalence; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors; D013081:Sperm Motility / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; C098483:NADH dehydrogenase subunit 4; D009245:NADH Dehydrogenase