ORAL-FACIAL CLEFTS IN CHINA--A FAMILY STUDY

中国的口颌面部裂痕--一项家庭研究

• 批准号: 3220999
• 负责人: Michael Melnick
• 金额: $ 15.99万
• 依托单位: UNIVERSITY OF SOUTHERN CALIFORNIA
• 依托单位国家: 美国
• 财政年份: 1986
• 资助国家: 美国
• 起止时间: 1986-05-01 至 1991-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3220999
• 关键词: Chinese; body physical characteristic; cleft lip; cleft palate; developmental genetics; disease /disorder prevention /control; epidemiology; genetic counseling; human population genetics; major histocompatibility complex; newborn human (0-6 weeks); patient /disease registry

Cleft lip with or without cleft palate (CL+-P) is a major health problem, afflicting 1 in every 500-1000 newborn babies world wide; the etiology remains unclear. For CL+-P, Orientals are at higher risk than Caucasians or Blacks. Although some studies have been reported from Japan, they are analytically quite limited and most inconclusive. The need to perform genetic hypothesis testing with various Asian populations, including Japan and China, remains. We propose to study the genetic etiology and other factors contributing to or associated with CL=-P in the population of shanghai, China. Several specific aims will be addressed: 1) Data regarding the outcome of birth (CL+-P or not) between 1982 and 1989 will be collected from 22 hospitals in Shanghai; these data will permit analysis of incidence as well as sex, season of birth, and parental age effects. 2) Family histories will be obtained from approximately 2000 CL+-P probands operated on at the 9th Surgical Hospital (1956-1983); these data will permit study of birth order effects and utilization of a variety of segregation analyses to test for single major gene inheritance, multifactorial inheritance, mixed inheritance, etc. 3) Data from the 2000 CL+-P probands and their families regarding quantitative dermatoglyphics and other bilateral anthropometric measurements will be used to assess the significance of fluctuating asymmetry. All data will be collected by the co-investigator in Shanghai and transported to Los Angeles, where it will be appropriately assembled in computer files and analyzed by the principle and co-investigators at USC and UCLA respectively. The answers to be gained from this study are essential to the effective genetic counseling of Oriental families as well as to prevention strategies in this racial group. In addition, this study will provide answers to questions about CL+-P etiology in all races and should raise new ones to be studied at a later date, particularly regarding genetic heterogeneity and developmental instability.

唇裂伴或不伴腭裂(CL+-P)是一个主要的健康问题， 全世界每500-1000名新生儿中就有1名患病；病因 目前仍不清楚。对于CL+-P，东方人比高加索人风险更高 或者是黑人。尽管日本已经报道了一些研究，但它们是 分析非常有限，而且最不确定。执行任务的需要 对包括日本在内的不同亚洲人群进行基因假设检验 中国，遗体。我们建议研究遗传病因学和其他 影响或与CL=-P有关的因素在人群中 上海，中国。将解决几个具体目标：1)数据 关于1982至1989年间的出生结局(CL+-P或非CL+P)将是 收集自上海22家医院；这些数据将允许分析 发病率以及性别、出生季节和父母年龄的影响。2) 家族史将从大约2000名CL+-P先证者那里获得 在第九外科医院进行手术(1956-1983)；这些数据将 允许研究出生顺序的影响和利用各种 分离分析以测试单个主基因的遗传， 多因素遗传、混合遗传等3)2000年数据 关于定量皮纹学的CL+-P先证者及其家庭 和其他双边人体测量将被用来评估 波动不对称的意义。所有数据将由 在上海的联合调查员，并被运送到洛杉矶，在那里它将 在计算机文件中适当组合并按原理进行分析 以及南加州大学和加州大学洛杉矶分校的联合调查员。 从这项研究中获得的答案是有效的 东方家庭的遗传咨询及其预防策略 在这个种族群体中。此外，这项研究将提供以下答案 关于所有种族的CL+-P病因学的问题，并应提出新的问题 以后的研究，特别是关于遗传异质性和 发育不稳定。