A GENE FOR WAARDENBURG SYNDROME TYPE-2 MAPS CLOSE TO THE HUMAN HOMOLOG OF THE MICROPHTHALMIA GENE AT CHROMOSOME 3P12-P14.1
A GENE FOR WAARDENBURG SYNDROME TYPE-2 MAPS CLOSE TO THE HUMAN HOMOLOG OF THE MICROPHTHALMIA GENE AT CHROMOSOME 3P12-P14.1
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DOI：
10.1038/ng0894-509
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发表时间：
1994-08-01
期刊：
影响因子：
30.8
通讯作者：
READ, AP
中科院分区：
文献类型：
--
作者：
HUGHES, AE;NEWTON, VE;READ, AP
Waardenburg综合征（WS）是一种常染色体显性遗传的听力损失和色素紊乱综合征，包括至少两种独立的病症。WS 1型通常由位于染色体2 q35的PAX 3突变引起，临床上以轻微的面部畸形区分。我们现在已经定位了WS 2型的基因。两个家系与位于染色体3 p12-p14.1上的一组微卫星标记连锁。D3 S1261在一个大的2型家族中在零重组时给出了6.5的最大lod得分。在第二个较小的家族中，相邻的标记D3 S1210在零重组时给出2.05的lod。有趣的是，小鼠小眼畸形基因的人同源物（MITF），在表型水平上是一个很好的候选者，最近被定位到3p12.3-p14.4。
Waardenburg syndrome (WS), an autosomal dominant syndrome of hearing loss and pigmentary disturbances, comprises at least two separate conditions. WS type 1 is normally caused by mutations in PAX3 located at chromosome 2q35 and is distinguished clinically by minor facial malformations. We have now located a gene for WS type 2. Two families show linkage to a group of microsatellite markers located on chromosome 3p12-p14.1. D3S1261 gave a maximum lod score of 6.5 at zero recombination in one large Type 2 family. in a second, smaller family the adjacent marker D3S1210 gave a lod of 2.05 at zero recombination. interestingly the human homologue (MITF) of the mouse microphthalmia gene, a good candidate at the phenotypic level, has recently been mapped to 3p12.3-p14.4.