Blepharophimosis syndrome is linked to chromosome 3q.
Blepharophimosis syndrome is linked to chromosome 3q.
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DOI：
10.1093/hmg/4.3.443
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发表时间：
1995-03
影响因子：
3.5
通讯作者：
Kent W. Small;M. Stalvey;Lucretia Fisher;L. Mullen;C. Dickel;K. A. Beadles;R. Reimer;A. Lessner;K. Lewis;M. Pericak-Vance
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文献类型：
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作者：
Kent W. Small;M. Stalvey;Lucretia Fisher;L. Mullen;C. Dickel;K. A. Beadles;R. Reimer;A. Lessner;K. Lewis;M. Pericak-Vance
眼睑畸形综合征(BPES，眼睑畸形综合征)是一种独特的先天性眼睑畸形，可零星发生或以常染色体显性方式遗传。以前的报道已经描述了染色体3q上相关的细胞遗传学异常。我们已经确定并采样了两个具有明显常染色体显性遗传的BPES家系，并对3Q上的17个多态标记进行了连锁检验。多点分析使用Rho、ACPP和D3S1238标记产生的最大LOD得分为3.23。没有观察到遗传异质性的证据。这些研究首次提供了导致BPES的缺陷基因位于3q22的非细胞遗传学证据。
Blepharophimosis syndrome (BPES, blepharophimosis eyelid syndrome) is a distinctive congenital eyelid malformation which can occur sporadically or be inherited in an autosomal dominant fashion. Previous reports have described associated cytogenetic abnormalities on chromosome 3q. We have ascertained and sampled two BPES families with apparent autosomal dominant inheritance and have tested for linkage with 17 polymorphic markers on 3q. Multipoint analysis generated a maximum LOD score of 3.23 using the markers RHO, ACPP and D3S1238. No evidence of genetic heterogeneity was observed. These studies provide the first non-cytogenetic evidence that a defective gene responsible for BPES is located on 3q22.