Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.
Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.
复制标题
7 号染色体上裂手/裂脚位点的物理定位及其对综合症性外指畸形的影响。
DOI：
10.1093/hmg/3.8.1345
复制
发表时间：
1994
影响因子：
3.5
通讯作者：
Little,S
中科院分区：
文献类型：
--
作者：
Scherer,SW;Poorkaj,P;Massa,H;Soder,S;Allen,T;Nunes,M;Geshuri,D;Wong,E;Belloni,E;Little,S
手/脚裂开(ectrodactyly；SHSF)是一种人类发育畸形，其特征是手指缺失和爪状肢体。该疾病的一种常染色体显性形式已被定位于7q21.3-q22.1；该基因座已被指定为SHFD1。我们已经为整个区域构建了一个由重叠的酵母人工染色体克隆组成的物理图谱。体细胞杂交和荧光原位杂交分析用于确定12例患者中SHSF相关的染色体重排。通过对5例缺失患者的分析，建立了SHFD1的临界区间为1.5Mb。在6例患者中发现的易位或倒位断裂点被定位在临界区彼此相距700kb的范围内。值得注意的是，在分析的患者中，有8名(67%)实际上被归类为综合征性指错位。因此，这些映射数据建立了简单的分叉手/分叉脚与这组更复杂的人类出生缺陷之间的关系。最后，我们将远端框基因家族的成员DLX5定位到SHFD1的临界区间。
Split hand/split foot (ectrodactyly; SHSF) Is a human developmental malformation characterized by missing digits and claw-like extremities. An autosomal dominant form of this disorder has been mapped to 7q21.3 - q22.1; the locus has been designatedSHFD1. We have constructed a physical map consisting of overlapping yeast artificial chromosome clones for the entire region. Somatic cell hybrid and fluorescentin situhybridization analyses were used to define SHSF-assoclated chromosomal rearrangements In twelve patients. An SHFD1 critical Interval of 1.5 Mb was established by analysis of five patients with deletions. Translocatlon or Inversion breakpoints found In six patients were mapped within 700 kb of each other in the critical region. Of note Is that eight of the patients analyzed (67%) are in fact classified as having syndromic ectrodactyly. Thus, these mapping data establish a relationship between simple split hand/split foot and this more complex group of human birth defects. Finally, we have mapped DLX5, a member of theDistal-lesshomeobox gene family, to the SHFD1 critical interval.