THE SKELETAL DYSPLASIAS (PROJECT 2)

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目及 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 中心，但不一定是研究者所在的机构。 本计画的目标是找出造成短肋多指症与窒息性胸廓营养不良的基因缺陷。 这些是常染色体隐性遗传的，主要是围产期致死性疾病，被假设为等位基因或共享的组成部分的途径。 使用基于家族的连锁分析研究，然后定位候选基因的方法，该建议将确定这些疾病的疾病基因。 这些基因的鉴定应该有助于确定一个新的途径，导致异常的软骨和骨。

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.