MOLECULAR BASIS OF PREAXIAL POLYDACTYLY TYPE 2

2 型前轴多指的分子基础

• 批准号: 6193812
• 负责人: ANNE V HING
• 金额: $ 11.27万
• 依托单位: UNIVERSITY OF WASHINGTON
• 依托单位国家: 美国
• 财政年份: 1995
• 资助国家: 美国
• 起止时间: 1995-08-01 至 2001-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6193812
• 关键词: autosomal dominant trait; biomarker; congenital skeletal disorder; developmental genetics; family genetics; fingers; foot; gene expression; gene mutation; genetic disorder; genetic markers; genetic polymorphism; human genetic material tag; human subject; limbs; linkage mapping; molecular cloning

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.

描述：本应用的目标是克隆基因 先性多型2型（PPD2），并确定PPD2的作用 在肢体发展中。 PPD患者的拇指多态度， 手指或脚趾。具体而言，ppd2导致拇指的多态度 和大脚趾的复制。 PPD继承为常染色体 具有可变表达性的主导性。 该调查员和合作者的初步工作已经 在7q36中证明了PPD2与5厘米区域的联系。具体目标 此应用程序是： 1。从目前的大家谱中收集其他家庭成员 进行分析，并收集新的PPD2血统并确认它们链接 到7q31。 2。从该区域开发新的微卫星标记 完善PPD2的定位。 3。从 这个精致的区域。 4。分析基因表达模式 最小区域以查看它们是否在 发展为候选PPD2基因。 5。突变分析 候选基因鉴定正确的PPD2基因。