利用3'非翻译区的DNA多态性对人21号染色体上的胱硫醚β-合酶（CBS）基因进行连锁图谱分析。
Linkage mapping of the cystathionine beta-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region.
作者信息
Avramopoulos D, Cox T, Kraus J P, Chakravarti A, Antonarakis S E
机构信息
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
出版信息
Hum Genet. 1993 Jan;90(5):566-8. doi: 10.1007/BF00217460.
We used single-strand conformation polymorphism (SSCP) to detect DNA polymorphisms in the 3' untranslated (3'UT) region of the gene for cystathionine beta-synthase (CBS). A polymorphism due to a T-to-C substitution at nucleotide 549 of the 3'UT region with heterozygosity of 46% has been identified. Genotypes for this polymorphism have been obtained in all of the informative CEPH families, and CBS has been placed in the linkage map of human chromosome 21.
我们使用单链构象多态性（SSCP）来检测胱硫醚β-合酶（CBS）基因3'非翻译（3'UT）区域的DNA多态性。已鉴定出3'UT区域核苷酸549处发生T到C替换导致的多态性，杂合度为46%。在所有信息丰富的CEPH家族中获得了该多态性的基因型，并且已将CBS定位到人类21号染色体的连锁图谱中。
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