Sumegi J, Wang J Y, Zhen D K, Eudy J D, Talmadge C B, Li B F, Berglund P, Weston M D, Yao S F, Ma-Edmonds M, Overbeck L, Kelley P M, Zabarovsky E, Uzvolgyi E, Stanbridge E J, Klein G, Kimberling W J
Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, Nebraska, 68198, USA.
Genomics. 1996 Jul 1;35(1):79-86. doi: 10.1006/geno.1996.0325.
The gene for Usher syndrome type II (USH2A), an autosomal recessive syndromic deafness, has been mapped to a region of 1q41 flanked proximally by D1S217 and distally by D1S439. Using sequence-tagged sites (STSs) within the region, a total of 21 yeast artificial chromosome (YAC) clones were isolated and ordered into a single contig that spans approximately 11.0 Mb. The order of microsatellite and STS markers in this region was established as D1S505-D1S425-DXS217-D1S556-D1S237-D1S4 74-EB1-EB2-KB6-AFM144XF2-KB1-K B4-D1S229-D1S490-D1S227-TGFbeta2-D1S439. Analysis of newly positioned polymorphic markers in recombinant individuals in two Usher syndrome type IIa families has enabled us to identify DXS474 and AFM144XF2 as two flanking markers for the Usher type IIa locus. The physical distance between the two markers is 1.0 Mb. This region is covered by eight YACs from the CEPH library: 945f7, 867g9, 762a6, 919h3, 794b8, 785h4, 848b9, and 841g2. A long-range physical map of the Usher type IIa critical region, using MluI, BssHII, NotI, EagI, and SacII, has been developed.
II型遗传性耳聋综合征（USH2A）是一种常染色体隐性综合征性耳聋，其基因已被定位到1q41区域，该区域近端由D1S217标记，远端由D1S439标记。利用该区域内的序列标签位点（STS），共分离出21个酵母人工染色体（YAC）克隆，并将其排列成一个单一的重叠群，该重叠群跨度约为11.0 Mb。该区域中微卫星和STS标记的顺序确定为D1S505-D1S425-DXS217-D1S556-D1S237-D1S474-EB1-EB2-KB6-AFM144XF2-KB1-KB4-D1S229-D1S490-D1S227-TGFbeta2-D1S439。对两个IIa型遗传性耳聋综合征家系中重组个体的新定位多态性标记进行分析，使我们能够确定DXS474和AFM144XF2为IIa型遗传性耳聋综合征位点的两个侧翼标记。这两个标记之间的物理距离为1.0 Mb。该区域由来自CEPH文库的8个YAC覆盖：945f7、867g9、762a6、919h3、794b8、785h4、848b9和841g2。利用MluI、BssHII、NotI、EagI和SacII构建了IIa型遗传性耳聋综合征关键区域的长程物理图谱。
