DFNB68，一个位于染色体区域19p13.2的新型常染色体隐性非综合征性听力损失基因座。
DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.
作者信息
Santos Regie Lyn P, Hassan Muhammad Jawad, Sikandar Shaheen, Lee Kwanghyuk, Ali Ghazanfar, Martin Protacio E, Wambangco Michael Angelo L, Ahmad Wasim, Leal Suzanne M
机构信息
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Alkek Building N1619.01, Houston, TX 77030, USA.
出版信息
Hum Genet. 2006 Aug;120(1):85-92. doi: 10.1007/s00439-006-0188-z. Epub 2006 May 16.
Abstract
From a large collection of families with autosomal recessive non-syndromic hearing impairment (NSHI) from Pakistan, linkage has been established for two unrelated consanguineous families to 19p13.2. This new locus was assigned the name DFNB68. A 10 cM genome scan and additional fine mapping were carried out using microsatellite marker loci. Linkage was established for both families to DFNB68 with maximum multipoint LOD scores of 4.8 and 4.6. The overlap of the homozygous regions between the two families was bounded by D19S586 and D19S584, which limits the locus interval to 1.9 cM and contains 1.4 Mb. The genes CTL2, KEAP1 and CDKN2D were screened but were negative for functional sequence variants.
摘要
在来自巴基斯坦的大量常染色体隐性非综合征性听力障碍（NSHI）家族中，已确定两个无亲缘关系的近亲家族与19p13.2存在连锁关系。这个新位点被命名为DFNB68。使用微卫星标记位点进行了10厘摩的基因组扫描和额外的精细定位。两个家族与DFNB68均建立了连锁关系，最大多点对数优势分数分别为4.8和4.6。两个家族纯合区域的重叠部分由D19S586和D19S584界定，这将位点区间限制在1.9厘摩，包含1.4兆碱基对。对CTL2、KEAP1和CDKN2D基因进行了筛查，但未发现功能性序列变异。
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1
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Am J Hum Genet. 2004 Dec;75(6):1143-8. doi: 10.1086/426405. Epub 2004 Oct 14.
2
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J Neurosci. 2004 Feb 18;24(7):1772-9. doi: 10.1523/JNEUROSCI.5063-03.2004.
3
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Ann Otol Rhinol Laryngol. 2003 Aug;112(8):722-8. doi: 10.1177/000348940311200813.
4
Progressive hearing loss in mice lacking the cyclin-dependent kinase inhibitor Ink4d.缺乏细胞周期蛋白依赖性激酶抑制剂Ink4d的小鼠出现进行性听力丧失。
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5
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Cell Motil Cytoskeleton. 2002 Mar;51(3):147-64. doi: 10.1002/cm.10025.
6
Merlin--rapid analysis of dense genetic maps using sparse gene flow trees.Merlin——利用稀疏基因流树对密集遗传图谱进行快速分析。
Nat Genet. 2002 Jan;30(1):97-101. doi: 10.1038/ng786. Epub 2001 Dec 3.
7
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8
Initial sequencing and analysis of the human genome.人类基因组的初步测序与分析。
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9
Allegro, a new computer program for multipoint linkage analysis.Allegro，一种用于多点连锁分析的新计算机程序。
Nat Genet. 2000 May;25(1):12-3. doi: 10.1038/75514.
10
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Methods Mol Biol. 2000;132:365-86. doi: 10.1385/1-59259-192-2:365.
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