跳至主要内容
临床试验/NCT00382369
NCT00382369已完成不适用

Whole Genome Scan of Extended Families With Familial Vocal Cord Paralysis

Hadassah Medical Organization1 个研究点 分布在 1 个国家目标入组 11 人开始时间: 2008年6月1日最近更新:
适应症

试验速览

阶段
不适用
状态
已完成
入组人数
11
试验地点
1

研究概览

简要总结

Vocal cord paralysis is a common cause of congenital stridor and airway obstruction. In this study we plan to identify the genetic locus of the genes in two extended families who suffer of the disease.

详细描述

In a number of families suffering of familial vocal cord paralysis it has previously been shown that the disease is inherited autosomal dominant. In one of the families the gene coding for the disease was located on chromosome 6q16. We will be analyzing 2 extended families with familial vocal cord paralysis to define their genetic defect leading to the disease. All family members will undergo a laryngoscopy to determine the extent of paralysis. For all family members we will isolate DNA and determine their microsatellite polymorphism on chromosome 6q16. If the results are negative we will continue the study and perform a whole genome scan to localize the gene(s) involved.

研究设计

研究类型
Observational
观察模型
Family Based
时间视角
Prospective

入排标准

年龄范围
10 Years 至 —(Child, Adult, Older Adult)
性别
All
接受健康志愿者

入选标准

  • members of families suffering of familial vocal cord paralysis

排除标准

  • 未提供

研究者

申办方类型
Other
责任方
Principal Investigator
主要研究者

Kerem Eithan

Professor

Hadassah Medical Organization

研究点 (1)

Loading locations...

相似试验