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人类β-珠蛋白结构基因旁DNA序列的多态性：与镰状突变的关系。

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.

作者信息

Kan Y W, Dozy A M

出版信息

Proc Natl Acad Sci U S A. 1978 Nov;75(11):5631-5. doi: 10.1073/pnas.75.11.5631.

DOI:10.1073/pnas.75.11.5631
PMID:281713
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC393021/
Abstract

Restriction endonuclease mapping of the human globin genes revealed a genetic variation in a Hpa I recognition site about 5000 nucleotides from the 3' end of the beta-globin structural gene. Instead of a normal 7.6-kilobase (kb) fragment which contains the beta-globin structural gene, 7.0-kb and 13.0-kb variants were detected. Both variants were found in people of African origin and were not detected in Asians or Caucasians. The 13.0-kb variant is frequently associated with the sickle hemoglobin mutation and may be useful for the prediction of the sickle cell gene in prenatal diagnosis. Polymorphism in a restriction enzyme site could be considered as a new class of genetic marker and may offer a new approach to linkage analysis and anthropological studies.

摘要

人类珠蛋白基因的限制性内切酶图谱显示，在距β-珠蛋白结构基因3'端约5000个核苷酸处的Hpa I识别位点存在遗传变异。检测到的不是包含β-珠蛋白结构基因的正常7.6千碱基（kb）片段，而是7.0-kb和13.0-kb的变异体。这两种变异体在非洲裔人群中都有发现，而在亚洲人或高加索人中未检测到。13.0-kb的变异体常与镰状血红蛋白突变相关，可能有助于产前诊断中镰状细胞基因的预测。限制性酶切位点的多态性可被视为一类新的遗传标记，可能为连锁分析和人类学研究提供新方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/699b/393021/331eda4a41ff/pnas00021-0395-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/699b/393021/3e6875666259/pnas00021-0394-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/699b/393021/6421dc1ca24c/pnas00021-0394-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/699b/393021/1921ea4fc2be/pnas00021-0394-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/699b/393021/9c1ac8dc9b88/pnas00021-0394-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/699b/393021/331eda4a41ff/pnas00021-0395-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/699b/393021/3e6875666259/pnas00021-0394-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/699b/393021/6421dc1ca24c/pnas00021-0394-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/699b/393021/1921ea4fc2be/pnas00021-0394-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/699b/393021/9c1ac8dc9b88/pnas00021-0394-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/699b/393021/331eda4a41ff/pnas00021-0395-a.jpg

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Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.人类β-珠蛋白结构基因旁DNA序列的多态性：与镰状突变的关系。
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