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DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24

被引：43
作者：
Greene, CC
McMillan, PM
Barker, SE
Kurnool, P
Lomax, MI
Burmeister, M
Lesperance, MM
机构：
[1] Univ Michigan Hlth Syst, Dept Otolaryngol Head & Neck Surg, Div Pediat Otolaryngol, Ann Arbor, MI 48109 USA
[2] Univ Michigan Hlth Syst, Dept Cell & Dev Biol, Ann Arbor, MI 48109 USA
[3] Univ Michigan Hlth Syst, Dept Psychiat, Ann Arbor, MI 48109 USA
[4] Univ Michigan Hlth Syst, Dept Human Genet, Ann Arbor, MI 48109 USA
[5] Univ Michigan Hlth Syst, Mental Hlth Res Inst, Ann Arbor, MI 48109 USA
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 68卷 / 01期
关键词：
D O I：
10.1086/316925
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Using linkage analysis, we identified a novel dominant locus, DFNA25, for delayed-onset, progressive, high-frequency, nonsyndromic sensorineural hearing loss in a large, multigenerational United States family of Czech descent. On the basis of recombinations in affected individuals, we determined that DFNA25 is located in a 20-cM region of chromosome 12q21-24 between D12S327 (centromeric) and D12S84 (telomeric), with a maximum two-point LOD score of 6.82, at recombination fraction .041, for D12S1030. Candidate genes in this region include ATP2A2, ATP2B1, UBE3B, and VR-OAC. DFNA25 may be the human ortholog of bronx waltzer (bv).
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页码：254 / 260
页数：7
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