MOLECULAR BASIS OF PREAXIAL POLYDACTYLY TYPE 2

描述：此应用程序的目标是克隆用于 轴前型多指症2(PPD2)，并确定PPD2的作用 在肢体发育方面。产后抑郁患者的拇指有多指， 手指或脚趾。具体地说，PPD2会导致拇指多指 和复制大脚趾。PPD遗传为常染色体 具有可变表现力的显性。 这位调查员和合作者的初步工作已经完成 在7q36中显示了PPD2与5 cM区域的连锁。具体目标 此应用程序的功能包括： 1.目前从一个大的谱系中收集额外的家庭成员 正在进行分析，并收集新的PPD2家系并确认它们之间的联系 至7q31。2.从该地区开发新的微卫星标记 细化PPD2的本地化。3.确定候选PPD2基因 这个精致的区域。4.分析基因的表达模式 最小区域，以查看它们是否在 发展成为PPD2候选基因。5.基因突变分析 候选基因，以确定正确的PPD2基因。

DESCRIPTION: The goals of this application are to clone the gene for preaxial polydactyly type 2 (PPD2), and to determine the role of PPD2 in limb development. Patients with PPD have a polydactyly of the thumbs, fingers or toes. Specifically, PPD2 results in polydactyly of the thumbs and duplication of the big toe. PPD is inherited as an autosomal dominant with variable expressivity. Preliminary work by this investigator, and collaborators, have demonstrated linkage of PPD2 to a 5 cM region in 7q36. The specific aims of this application are: 1. To collect additional family members from a large pedigree currently being analyzed, and to collect new PPD2 pedigrees and confirm they link to 7q31. 2. Develop new microsatellite markers from this region to refine the localization of PPD2. 3. Identify candidate PPD2 genes from this refined region. 4. Analyze patterns of expression of genes from the minimal region to see if they are expressed appropriately during development to be candidate PPD2 genes. 5. Mutation analysis of candidate genes to identify the correct PPD2 gene.