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人触珠蛋白基因簇中的多态性：含有多个触珠蛋白相关（Hpr）基因的染色体。

Polymorphisms in the human haptoglobin gene cluster: chromosomes with multiple haptoglobin-related (Hpr) genes.

作者信息

Maeda N, McEvoy S M, Harris H F, Huisman T H, Smithies O

出版信息

Proc Natl Acad Sci U S A. 1986 Oct;83(19):7395-9. doi: 10.1073/pnas.83.19.7395.

DOI:10.1073/pnas.83.19.7395
PMID:2876426
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC386724/
Abstract

We have found polymorphisms for the number of tandemly arranged haptoglobin-related (Hpr) genes in the haptoglobin gene cluster of Blacks. Genomic mapping and nucleotide sequence analysis indicate that two copies of the Hpr gene first resulted from unequal but homologous crossing-over in a region 3' to the haptoglobin (Hp) and the haptoglobin-related genes. Subsequent increases in the number of Hpr loci have occurred in some chromosomes. Among 25 American Blacks studied (15 were unrelated), 2 related individuals have one extra copy of the Hpr gene and 5 unrelated individuals have more than two extra Hpr genes. None of 26 Whites and one Oriental studied have extra copies. In one of the Blacks, six tandemly arranged Hpr genes were demonstrated in one chromosome by pulsed field gradient electrophoresis. His other chromosome had one Hpr gene. The tandem Hpr genes were found in individuals with the haptoglobin genotypes Hp2/Hp2 (3 of 3 tested) and Hp2/Hp1 (4 of 11 tested), but none were found in the Hp1/Hp1 individuals (11 tested). Fibroblast cell cultures from two Hp2/Hp1 heterozygotes were fused to mouse cells to obtain cell lines retaining a human chromosome 16 on which the haptoglobin gene cluster is located. DNA analysis of the hybrid cells showed that in both individuals the tandemly arranged Hpr genes are linked to the Hp2 allele. These results suggest that the multiple copies are associated with the Hp2 gene.

摘要

我们在黑人的触珠蛋白基因簇中发现了串联排列的触珠蛋白相关（Hpr）基因数量的多态性。基因组图谱绘制和核苷酸序列分析表明，Hpr基因的两个拷贝最初是由触珠蛋白（Hp）和触珠蛋白相关基因3'端区域的不等位但同源的交叉互换产生的。随后，一些染色体中Hpr基因座的数量有所增加。在研究的25名美国黑人中（15名无亲缘关系），2名有亲缘关系的个体有一个额外的Hpr基因拷贝，5名无亲缘关系的个体有两个以上额外的Hpr基因。在研究的26名白人和1名东方人中，没有人有额外的拷贝。在一名黑人中，通过脉冲场梯度电泳在一条染色体上证实有六个串联排列的Hpr基因。他的另一条染色体有一个Hpr基因。串联的Hpr基因在触珠蛋白基因型为Hp2/Hp2（3例检测中的3例）和Hp2/Hp1（11例检测中的4例）的个体中被发现，但在Hp1/Hp1个体（11例检测）中未发现。将两名Hp2/Hp1杂合子的成纤维细胞培养物与小鼠细胞融合，以获得保留有人16号染色体（触珠蛋白基因簇位于其上）的细胞系。对杂交细胞的DNA分析表明，在这两名个体中，串联排列的Hpr基因均与Hp2等位基因相连。这些结果表明，多个拷贝与Hp2基因相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc66/386724/2daa87c2387c/pnas00323-0278-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc66/386724/b76805e24c5d/pnas00323-0277-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc66/386724/248c37ece026/pnas00323-0277-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc66/386724/e946f05cd8ec/pnas00323-0277-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc66/386724/ae2cfd1aa1bc/pnas00323-0277-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc66/386724/dd038d27d9a1/pnas00323-0278-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc66/386724/f99039382336/pnas00323-0278-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc66/386724/ae23d3fceb8a/pnas00323-0278-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc66/386724/2daa87c2387c/pnas00323-0278-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc66/386724/b76805e24c5d/pnas00323-0277-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc66/386724/248c37ece026/pnas00323-0277-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc66/386724/e946f05cd8ec/pnas00323-0277-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc66/386724/ae2cfd1aa1bc/pnas00323-0277-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc66/386724/dd038d27d9a1/pnas00323-0278-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc66/386724/f99039382336/pnas00323-0278-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc66/386724/ae23d3fceb8a/pnas00323-0278-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc66/386724/2daa87c2387c/pnas00323-0278-d.jpg

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