DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.
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DOI：
10.1038/ejhg.2009.121
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发表时间：
2010-01
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对巴基斯坦近交系PKDF280的遗传分析，分离了严重到严重的语前感音神经性耳聋，为人类染色体9q34.3上的DFNB基因座提供了证据。通过两点连锁分析确定耳聋性状与标记D9SH159的共分离(θ=0时LOD值为9.43)。另外两个大家系，PKDF517和PKDF741，共分离隐性耳聋，标记与相同的间隔连锁。对这三个家系的单倍型分析将D9S1818(着丝粒)和D9SH6(端粒)定义的间隔细化到3.84Mb。该区间与先前报道的DFNB33基因座重叠，该基因座的染色体图谱位置最近被修改，并被分配到染色体10p11.23-q21.1上的一个新位置。在PKDF280家系中分离到的位于染色体9q上的非综合征性耳聋基因座命名为DFNB79。我们目前正在筛选113个候选DFNB79基因的突变，并已排除CACNA1B、EDF1、PTGDS、EHMT1、QSOX2、NOTCH1、MIR126和MIR602。
Genetic analysis of inbred Pakistani family PKDF280, segregating prelingual severe to profound sensorineural hearing loss, provided evidence for a DFNB locus on human chromosome 9q34.3. Co-segregation of the deafness trait with marker D9SH159 was determined by a two-point linkage analysis (LOD score 9.43 at θ=0). Two additional large families, PKDF517 and PKDF741, co-segregate recessive deafness with markers linked to the same interval. Haplotype analyses of these three families refined the interval to 3.84 Mb defined by D9S1818 (centromeric) and D9SH6 (telomeric). This interval overlaps with the previously reported DFNB33 locus whose chromosomal map position has been recently revised and assigned to a new position on chromosome 10p11.23-q21.1. The nonsyndromic deafness locus on chromosome 9q segregating in family PKDF280 was designated DFNB79. We are currently screening the 113 candidate DFNB79 genes for mutations and have excluded CACNA1B, EDF1, PTGDS, EHMT1, QSOX2, NOTCH1, MIR126 and MIR602.
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