Progress in identifying genes responsible for multi-factorial nonsyndromie CL（P） has come from the study ofrare single-gene forms of syndromic CL（P）. These includeX-linked elefting with ankyloglossia （tethering of tongueby short or anterior frenulum） and two forms of autoso-real dominant clefting, one associated with missing teethand the other with infertility and anosmia （inability tosmell）. These three mendelian forms of syndromic clef-ting result from mutations in two transcription factorgenes, TBX1 and MSX1, and in the gene FGFR1, whichencodes a cell signaling molecule. The most striking find-ing, however, is that a variety of rare mutations have nowbeen found in all three of these genes in patients from avariety of different ethnic backgrounds who appear tohave nonsyndromic CL（P）. The frequency of mutation inCL（P） patients is approximately 5％ for TBX1, approxi-mately 2% for MSX1, and 1％ for FGFR1. In all cases,investigation of additional family members may discloseaffected individuals with more typical features of the syn-dromes associated with mutations in that gene. Anothertranscription factor gene, IRF6, in which mutations causethe syndromic form of CL（P） known as Van tier Woudesyndrome, is also involved in nonsyndromic clefting. Vander Woude syndrome has pits in the lower lip in 85% ofpatients, but 15% may present only with cleft lip or pal-ate. What is very likely, however, is that these genes re-present only a fraction of the total genetic contribution tothis birth defect and that marked locus and allelic hetero-geneity will be the rule. It is unknown to what extent themajority of CL（P） patients will turn out to have the de-fect because of rare alleles at additional single loci, or be-cause of multifactorial interactions between more commonalleles at many loci. Finally, maternal smoking is a wellrecognized risk factor for CL（P）.
前言/序言
尽管对目前盛行的我国高等医学教育实行双语、英语教学的做法存在许多不同的争论和意见，但似乎前进的脚步并没有停止。因为这毕竟是我国的医学教育尽快接轨国际一流以培养高级医学人才的需要。然而，绝大多数的医学课程仍然没有合适的双语教材。就我们所从事的《医学遗传学》或《遗传医学》课程教学来说，几乎所有已开展双语教学的高等院校，都是采用不匹配的一套英文教材和一套中文教材的做法，给广大师生的教和学带来显而易见的不便，严重影响了教学效果。因此，出版合适的双语教材，应该是实施正确的双语教学的第一步。本书出版的目的正在于此。 由Nussbaum、Mclnnes和Willard三位教授主编的《Thompson ＆Thompson Genetics in Medicine（第7版）》（2007）为美国绝大多数医科院校的通用教材，当然应该是医学遗传学双语教材的首选。为了克服英、中双语带来的页数增多、成本上涨问题，我们采取了以下主要措施，以利于广大师生的使用： 1.所有的对应中文翻译内容全部置于本书所附的cD中，仅将每章的重点或难点段落印刷出来。 2.全书采用黑白印刷而非英文版的彩色印刷（所有英文版彩图、插图和照片均包括在CD中），并压缩有关插图的尺寸，适当缩小全书的字号。 3.将英文版中央部分列举的疾病病案“Clinical Case Studies IIIustrating Genetic Principles”，以及每章后的参考文献置于CD中。 4.书末的“Index”部分尽量只保留英文版的一级索引。 通过上述方法，我们力争在英文版全书585页的基础上，使双语版控制在最少的页码以内，却不影响英文版的全貌和正常使用。
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