A gene responsible for profound congenital nonsyndromal recessive deafness maps to the pericentromeric region of chromosome 17

摘要: Autosomal recessive deafness is the most common form of human hereditary hearing loss. Two percent 2,185 residents Bengkala, Bali, Indonesia have profound congenital neurosensory nonsyndromal due to a fully penetrant autosomal mutation (NARD1). Families, identified through children with having parents, give expected 25% deaf progeny when corrected for ascertainment bias. Congenitally individuals from Bengkala show no response pure tone audiological examination. Obligate heterozygotes in normal or borderline hearing. A chromosomal location NARD1 was assigned directly using linkage strategy that combines allele-frequency dependent homozygosity mapping (AHM) followed by an analysis historical recombinants position relative flanking markers. Thirteen villagers parents were typed initially 148 STRPs distributed across genome and cluster tightly linked 17p markers significantly higher number homozygotes than under Hardy-Weinberg equilibrium identified. maps closest D17S261 (Mfd41) D17S805 (AFM234ta1) are 3.2 cM apart. Recombinant genotypes markers, D17S122 (VAW409) D17S783 (AFM026vh7), homozygous place 5.3more » interval pericentromeric region chromosome 17 on refined 17p-17q12 genetic map.« less