基于微卫星的范德伍德综合征基因座精细定位至D1S245和D1S414之间4.1厘摩的区间。
Microsatellite-based fine mapping of the Van der Woude syndrome locus to an interval of 4.1 cM between D1S245 and D1S414.
作者信息
Sander A, Murray J C, Scherpbier-Heddema T, Buetow K H, Weissenbach J, Zingg M, Ludwig K, Schmelzle R
机构信息
Clinic of Oral-Maxillofacial Surgery, Nordwestdeutsche Kieferklinik, University of Hamburg, Germany.
出版信息
Am J Hum Genet. 1995 Jan;56(1):310-8.
Van der Woude syndrome (VWS) is an autosomal dominant craniofacial disorder characterized by lip pits, clefting of the primary or secondary palate, and hypodontia. The gene has been localized, by RFLP-based linkage studies, to region 1q32-41 between D1S65-REN and D1S65-TGFB2. In this study we report the linkage analysis of 15 VWS families, using 18 microsatellite markers. Multipoint linkage analysis places the gene, with significant odds of 2,344:1, in a 4.1-cM interval flanked by D1S245 and D1S414. Two-point linkage analysis demonstrates close linkage of VWS with D1S205 (lod score [Z] = 24.41 at theta = .00) and with D1S491 (Z = 21.23 at theta = .00). The results revise the previous assignment of the VWS locus and show in an integrated map of the region 1q32-42 that the VWS gene resides more distally than previously suggested. When information about heterozygosity of the closely linked marker D1S491 in the affected members of the VWS family with a microdeletion is taken into account, the VWS critical region can be further narrowed, to the 3.6-cM interval between D1S491 and D1S414.
范德伍德综合征（VWS）是一种常染色体显性遗传的颅面疾病，其特征为唇凹、原发性或继发性腭裂以及牙发育不全。通过基于限制性片段长度多态性（RFLP）的连锁研究，该基因已被定位到D1S65 - REN和D1S65 - TGFB2之间的1q32 - 41区域。在本研究中，我们报告了对15个VWS家族使用18个微卫星标记进行的连锁分析。多点连锁分析将该基因定位在一个4.1厘摩（cM）的区间内，其显著优势比为2344:1，该区间两侧分别为D1S245和D1S414。两点连锁分析表明VWS与D1S205紧密连锁（在θ = 0.00时，连锁对数[Z] = 24.41），与D1S491也紧密连锁（在θ = 0.00时，Z = 21.23）。这些结果修正了之前对VWS基因座的定位，并在1q32 - 42区域的综合图谱中显示，VWS基因的位置比之前认为的更靠远端。当考虑到VWS家族中患有微缺失的受影响成员中紧密连锁标记D1S491的杂合性信息时，VWS关键区域可进一步缩小至D1S491和D1S414之间的3.6 - cM区间。
Zotero 插件