分子诊断学：胚胎植入前的分子生物学检验.pptVIP

性连锁遗传病（sex-linked disorder）以隐性遗传病为多见。致病基因在X染色体上，性状是隐性的，女性大多只是携带者，这类女性携带者与正常男性婚配，子代中的男性有1/2是概率患病，女性不发病，但有1/2的概率是携带者。男性患者与正常女性婚配，子代中男性正常，女性都是携带者。因此X连锁隐性遗传在患病系中常表现为女性携带，男性患病。男性的致病基因只能随着X染色体传给女儿，不能传给儿子，称为交叉遗传。这类常见的疾病有血友病A、假性肥大性肌营养不良症（Duchenne肌营养不良），红绿色盲等。其中红绿色盲如女性携带者和男性患者婚配，子代中的男性有1/2的概率患病，而女性可有1/2的概率患病及1/2概率为携带者。 * 第一极体的均分是在减数第二次分裂是进行的，它无同源染色体，含有一半人体染色体数的四分体（此时已不能叫做四分体，因为四分体特指同源染色体配对联会时的形态）。分裂时，连接在同一染色体上的着丝点分开，四分体分裂成两条染色体，分别向细胞两极移动， * 第一极体的均分是在减数第二次分裂是进行的，它无同源染色体，含有一半人体染色体数的四分体（此时已不能叫做四分体，因为四分体特指同源染色体配对联会时的形态）。分裂时，连接在同一染色体上的着丝点分开，四分体分裂成两条染色体，分别向细胞两极移动， * 第一极体的均分是在减数第二次分裂是进行的，它无同源染色体，含有一半人体染色体数的四分体（此时已不能叫做四分体，因为四分体特指同源染色体配对联会时的形态）。分裂时，连接在同一染色体上的着丝点分开，四分体分裂成两条染色体，分别向细胞两极移动， * OVER 200 recessive X chromosome-linked diseases, typically affecting only hemizygous males, have been identified. In many of these, prenatal diagnosis is possible by chorion villus sampling (CVS) or amniocentesis, followed by cytogenetic, biochemical or molecular analysis of the cells recovered from the conceptus. In others, the only alternative is to determine the sex of the fetus. If the fetus is affected by the defect or is male, abortion can be offered. Diagnosis of genetic defects in preimplantation embryos would allow those unaffected to be identified and transferred to the uterus1. Here we report the first established pregnancies using this procedure, in two couples known to be at risk of transmitting adrenoleukodystrophy and X-linked mental retardation. Two female embryos were transferred after?in vitro?fertilization (IVF), biopsy of a single cell at the six- to eight-cell stage, and sexing by DNA amplification of a Y chromosome-specific repeat sequence. Both women are confirmed as carrying normal female twins * Allele drop-out occurs when a sample is typed and one or more alleles are not present. This can be due to a variety of factors: ? The initial input quantity of DNA is too low, resulting in the failure to amplify one or more alleles in the sample. A mutation in the primer binding site