国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2011, Vol. 30 ›› Issue (2): 75-79.

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单基因遗传性疾病的胚胎种植前遗传学诊断－单倍体定型连锁分析的运用

孔德汶   

  1. 加拿大蒙特利尔生殖中心
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2011-03-15 发布日期:2011-03-15
  • 通讯作者: 孔德汶

The Preimplantation Genetic Diagnosis for Single Gene Defects: Application of Linkage Analysis with Haplotyping

KONG De-wen   

  1. The Reproduction Centre in Montreal，Canada
  • Received:1900-01-01 Revised:1900-01-01 Published:2011-03-15 Online:2011-03-15
  • Contact: KONG De-wen

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摘要： 单基因疾病的胚胎种植前遗传学诊断（SGD－PGD）是一种已在很多欧洲和北 洲 家建

立并能提供临床服务的胚胎遗传学分析诊断程序，能为那些家庭中带有某种遗传性疾病致病基因的夫妇

提供临床服务，使这些夫妇可生养出正常或隐性致病基因携带者的子代。从SGD鄄PGD 获得的正常婴儿很

有可能使该致病基因就此在这些家庭中不再下传，因此也有人认为此临床服务是遗传性疾病在基因水平

上的一级预防，大有前途。在中 ，人口基数巨大，遗传性疾病的发病绝对人数很高，故在中 开展SGD鄄

PGD 对提高人口素质和国计民生有重大意义。从1998 年以来，笔者对35 种单基因遗传性疾病作过SGD鄄

PGD 可行性评估、设计和实施。简要述评单倍体定型连锁分析在SGD鄄PGD 中的应用。

关键词: 单基因疾病的胚胎种植前遗传学诊断, 单倍体定型, DNA 多聚酶链式反应, DNA 在扩增 中的位点丢失, 连续短重复顺序

Abstract: The preimplantation genetic diagnosis for single gene defects （SGD-PGD ）has been an
embryo genetic analysis established in many European and North America countries，which can be used in
clinical service for those couples who have the transmittable gene mutations in their families. With SGD PGD,
they could give birth to normal baby or carrier of the recessive inherited disorder. The babies from SGD PGD
cases, who had normal genomics, could stop the transmission of the mutation in those families. So, SGD PGD
has been considered as a potential primary prevention of genetic diseases at the gene level. In China, the
population is great, and thus the sub population with inheritable diseases is also great. So, it is important，for
healthy diathesis, national economy and the people’s livelihood, to develop SGD PGD in China. Since 1998，
the writer has taken the evaluation of the SGD PGD feasibility，design and practice for 35 single gene defects.
This article will make a brief commentary for the usage of linkage analysis with haplotyping in SGD PGD.

Key words: SGD-PGD, Haplotyping, Polymerase chain reaction, Auelic drop-out, Short tandem repeats