Bamshad M, Watkins W S, Zenger R K, Bohnsack J F, Carey J C, Otterud B, Krakowiak P A, Robertson M, Jorde L B
Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City 84132-1001.
Am J Hum Genet. 1994 Dec;55(6):1153-8.
Club foot is one of the most common human congenital malformations. Distal arthrogryposis type I (DA-1) is a frequent cause of dominantly inherited club foot. Performing a genomewide search using short tandem repeat (STR) polymorphisms, we have mapped a DA-1 gene to the pericentromeric region of chromosome 9 in a large kindred. Linkage analysis has generated a positive lod score of 5.90 at theta = 0, with the marker GS-4. Multiple recombinants bracketing the region have been identified. Analysis of an additional family demonstrated no linkage to the same locus, indicating likely locus heterogeneity. Of the autosomal congenital contracture disorders causing positional foot deformities, this is the first to be mapped.
马蹄内翻足是人类最常见的先天性畸形之一。I型远端关节弯曲综合征（DA-1）是常染色体显性遗传马蹄内翻足的常见病因。我们利用短串联重复序列（STR）多态性进行全基因组搜索，在一个大家系中将一个DA-1基因定位于9号染色体的着丝粒周围区域。连锁分析在θ=0时产生了5.90的正对数优势分数，标记为GS-4。已鉴定出多个包围该区域的重组体。对另一个家系的分析表明与同一基因座无连锁关系，提示可能存在基因座异质性。在导致足部位置性畸形的常染色体先天性挛缩症中，这是第一个被定位的疾病。
