Sperling K
Wien Klin Wochenschr. 1982 Apr 16;94(8):199-204.
Most of the well-known monogenic disorders to date cannot be diagnosed prenatally. In principle, this problem can be overcome indirectly if the gene in question is linked to a cytogenetic, biochemical, or molecular polymorphism. In this respect, the last-mentioned will gain increasing importance in prenatal diagnosis in the near future. The problems of such linkage studies in X-linked, autosomal dominant, and recessive disorders are discussed. Prenatal diagnosis, monogenic disorders, linkage group analysis, chromosomal polymorphisms, DNA-sequence polymorphisms.
迄今为止,大多数知名的单基因疾病无法在产前进行诊断。原则上,如果所讨论的基因与细胞遗传学、生化或分子多态性相关联,这个问题可以间接得到解决。在这方面,分子多态性在不久的将来会在产前诊断中变得越来越重要。本文讨论了在X连锁、常染色体显性和隐性疾病中进行此类连锁研究的问题。产前诊断、单基因疾病、连锁群分析、染色体多态性、DNA序列多态性。