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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.

DOI:10.1007/BF00217460
PMID:8094069
Abstract

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.

摘要

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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1
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2
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本文引用的文献

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Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase.纳克量免疫纯化mRNA的克隆与筛选：胱硫醚β-合酶及丙酰辅酶A羧化酶β亚基的cDNA克隆与染色体定位
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The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17.
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The alpha-A-crystallin and cystathionine beta-synthase genes are physically very closely linked in proximal mouse chromosome 17.α-A-晶状体蛋白基因和胱硫醚β-合酶基因在小鼠近端17号染色体上在物理位置上紧密连锁。
Genomics. 1990 Jun;7(2):284-8. doi: 10.1016/0888-7543(90)90553-7.
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Detecting high-resolution polymorphisms in human coding loci by combining PCR and single-strand conformation polymorphism (SSCP) analysis.通过聚合酶链式反应（PCR）与单链构象多态性（SSCP）分析相结合检测人类编码基因座中的高分辨率多态性。
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