THE SKELETAL DYSPLASIAS (PROJECT 2)

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 该项目的目标是确定导致短肋骨多指综合征和窒息胸廓营养不良的缺陷基因。这些都是常染色体隐性遗传，主要是围产期致死性疾病，被假设为等位基因或途径的共同组成部分。利用基于家庭的连锁分析研究，然后是位置候选基因方法，这项建议将识别这些疾病的致病基因。这些基因的识别将有助于确定导致软骨和骨骼异常的新途径。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The goals of this project are to define the defective genes responsible for the short-rib polydactyly syndromes and asphyxiating thoracic dystrophy. These are autosomal recessive, primarily perinatal lethal disorders that are hypothesized to be either allelic or are shared components of a pathway. Using family based, linkage analysis studies, and then positional candidate gene approaches, this proposal will identify the disease genes for these disorders. Identification of these genes should help define a novel pathway which leads to abnormal cartilage and bone.