非综合征性耳聋DFNB49的一个新基因座定位于5号染色体q12.3 - q14.1区域。
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
作者信息
Ramzan Khushnooda, Shaikh Rehan S, Ahmad Jamil, Khan Shaheen N, Riazuddin Saima, Ahmed Zubair M, Friedman Thomas B, Wilcox Edward R, Riazuddin Sheikh
机构信息
National Centre of Excellence in Molecular Biology, University of the Punjab, 87-West Canal Bank Road, Thokar Niaz Baig, Lahore 53700, Pakistan.
出版信息
Hum Genet. 2005 Jan;116(1-2):17-22. doi: 10.1007/s00439-004-1205-8. Epub 2004 Nov 6.
Cosegregation of markers on chromosome 5q12.3-q14.1 with profound congenital deafness in two Pakistani families (PKDF041 and PKDF141) defines a new recessive deafness locus, DFNB49. A maximum two-point lod score of 4.44 and 5.94 at recombination fraction theta=0 was obtained for markers D5S2055 and D5S424 in families PKDF041 and PKDF141, respectively. Haplotype analysis revealed an 11 cM linkage region flanked by markers D5S647 (74.07 cM) and D5S1501 (85.25 cM). Candidate deafness genes in this region include SLC30A5, OCLN, GTF2H2, and BTF3, encoding solute carrier family 30 (zinc transporter) member 5, occludin, RNA polymerase II transcription initiation factor, and basic transcription factor 3, respectively. Sequence analysis of the coding exons of SLC30A5 in DNA samples from two affected individuals of families PKDF041 and PKDF141 revealed no mutation. The mapping of DFNB49 further confirms the heterogeneity underlying autosomal recessive forms of nonsyndromic deafness.
在两个巴基斯坦家庭（PKDF041和PKDF141）中，5号染色体q12.3 - q14.1上的标记与严重先天性耳聋的共分离确定了一个新的隐性耳聋位点DFNB49。在PKDF041和PKDF141家庭中，标记D5S2055和D5S424在重组率θ = 0时分别获得了最高两点对数优势分数4.44和5.94。单倍型分析揭示了一个11厘摩的连锁区域，两侧分别为标记D5S647（74.07厘摩）和D5S1501（85.25厘摩）。该区域的候选耳聋基因包括SLC30A5、OCLN、GTF2H2和BTF3，分别编码溶质载体家族30（锌转运体）成员5、闭合蛋白、RNA聚合酶II转录起始因子和基本转录因子3。对PKDF041和PKDF141家庭两名受影响个体的DNA样本中SLC30A5编码外显子的序列分析未发现突变。DFNB49的定位进一步证实了常染色体隐性非综合征性耳聋潜在的遗传异质性。
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