Davies K E, Taylor P, Müller C R
Department of Biochemistry, St. Mary's Hospital Medical School, Paddington, London, England, U.K.
Differentiation. 1983;23 Suppl:S44-7. doi: 10.1007/978-3-642-69150-8_8.
Genetic linkage analysis using restriction fragment length polymorphisms is feasible for a human sex-linked disorder even when the primary gene product is not known. Distant probes localise a defect, while more closely linked clones can be used either for unambiguous carrier detection, particularly if sequences on both sides of the gene defect can be isolated, or for prenatal diagnosis using DNA obtained in early pregnancy by trophoblast sampling. Furthermore, with the isolation of sex chromosome libraries and the development of molecular biological techniques, a greater understanding of the basis of gonadal differentiation and sex-linked diseases should be achieved in the next few years.
即使主要基因产物未知,利用限制性片段长度多态性进行遗传连锁分析对于人类性连锁疾病也是可行的。远距离探针可定位缺陷,而连锁更紧密的克隆可用于明确的携带者检测,特别是如果能够分离出基因缺陷两侧的序列时,或者用于利用妊娠早期通过滋养层取样获得的DNA进行产前诊断。此外,随着性染色体文库的分离和分子生物学技术的发展,在未来几年里,我们应该能对性腺分化和性连锁疾病的基础有更深入的了解。