Steiner C, Ehtesham N, Taylor K D, Sebald E, Cantor R, King L M, Guo X, Hang T, Hu M S, Cui J-R, Friedman B, Norato D, Allanson J, Honeywell C, Mettler G, Field F, Lachman R, Cohn D H, Krakow D
Medical Genetics Department, Medical Sciences School, State University of Campinas, Campinas, São Paulo, Brazil.
J Med Genet. 2004 Apr;41(4):266-9. doi: 10.1136/jmg.2003.012252.
Spondylocarpotarsal synostosis syndrome is a rare autosomal recessive disorder characterised by vertebral fusions, frequently manifesting as an unsegmented vertebral bar, as well as fusions of the carpal and tarsal bones. In a study of three consanguineous families and one non-consanguineous family, linkage analysis was used to establish the chromosomal location of the disease gene. Linkage analysis localised the disease gene to chromosome 3p14. A maximum lod score of 6.49 (q = 0) was obtained for the marker at locus D3S3532 on chromosome 3p. Recombination mapping narrowed the linked region to the 5.7 cM genetic interval between the markers at loci D3S3724 and D3S1300. A common region of homozygosity was found between the markers at loci D3S3724 and D3S1300, defining a physical interval of approximately 4 million base pairs likely to contain the disease gene. Identification of the gene responsible for this disorder will provide insight into the genes that play a role in the formation of the vertebral column and joints.
脊椎腕跗骨联合综合征是一种罕见的常染色体隐性疾病，其特征为椎体融合，常表现为未分节的椎体条带，以及腕骨和跗骨融合。在一项对三个近亲家庭和一个非近亲家庭的研究中，采用连锁分析来确定疾病基因的染色体定位。连锁分析将疾病基因定位到3号染色体p14区域。在3号染色体p上的D3S3532位点的标记获得了最大lod值6.49（q = 0）。重组定位将连锁区域缩小到D3S3724和D3S1300位点标记之间的5.7 cM遗传区间。在D3S3724和D3S1300位点的标记之间发现了一个共同的纯合区域，确定了一个可能包含疾病基因的约400万个碱基对的物理区间。鉴定导致这种疾病的基因将有助于深入了解在脊柱和关节形成中起作用的基因。
