ORAL-FACIAL CLEFTS IN CHINA

中国的口面部裂痕

• 批准号: 3221002
• 负责人: Michael Melnick
• 金额: $ 11.29万
• 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/3221002
• 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名受到影响;病因学 仍不清楚 对于CL+-P，东方人的风险高于白人 或者黑人 虽然日本已经报道了一些研究，但它们是 在分析上非常有限，而且最不确定。 需要执行 对包括日本在内的各种亚洲人群进行遗传假设检验 中国，仍然。 我们建议研究遗传病因学和其他 在以下人群中导致CL=-P或与CL=-P相关的因素 中国上海 将讨论几个具体目标：1）数据 关于1982年至1989年之间的出生结果（CL+-P与否）， 从上海22家医院收集的数据，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。 （二） 将从大约2000名CL+-P先证者中获得家族史 在第九外科医院（1956-1983）进行手术;这些数据将 允许研究出生顺序的影响和利用各种 分离分析以测试单主基因遗传， 多因子遗传、混合遗传等。3）2000年的数据 CL+-P先证者及其家族定量皮纹学研究 和其他双边人体测量将用于评估 波动不对称的意义。 所有数据将由 在上海的合作研究员，并运送到洛杉矶，在那里它将 在计算机文件中适当地组装并通过原理分析 以及南加州大学和加州大学洛杉矶分校的合作研究者。 从这项研究中获得的答案对于有效地 东方家庭的遗传咨询以及预防策略 在这个种族群体中。 此外，本研究还将回答以下问题： 关于所有种族中CL+-P病因的问题，应该提出新的问题， 在以后的研究中，特别是关于遗传异质性， 发育不稳定性。