人类4号染色体的分子遗传学

Molecular genetics of human chromosome 4.

作者信息

Gusella J A, Gilliam T C, MacDonald M E, Cheng S V, Tanzi R E

出版信息

J Med Genet. 1986 Jun;23(3):193-9. doi: 10.1136/jmg.23.3.193.

DOI:10.1136/jmg.23.3.193

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049626/

Abstract

The recent discovery that the gene causing Huntington's disease (HD) resides on chromosome 4 has generated increased interest in this autosome. Chromosome 4 contains two of the more informative conventional genetic markers, GC and MNS, but most loci have been assigned to it by recombinant DNA techniques. There are currently more anonymous DNA fragments detecting restriction fragment length polymorphisms (RFLPs) on chromosome 4 than on any other autosome. In addition, most of the cloned genes from this chromosome detect useful RFLPs. A genetic linkage map including both conventional and DNA markers should soon span the entire chromosome and will undoubtedly lead to the localisation of other inherited disorders.

摘要

最近发现导致亨廷顿舞蹈症（HD）的基因位于4号染色体上，这使得人们对这条常染色体的兴趣大增。4号染色体包含两个信息量较大的传统遗传标记，即GC和MNS，但大多数基因座是通过重组DNA技术定位到该染色体上的。目前，4号染色体上检测限制性片段长度多态性（RFLP）的匿名DNA片段比其他任何常染色体都多。此外，这条染色体上的大多数克隆基因都能检测到有用的RFLP。一张包含传统标记和DNA标记的遗传连锁图谱应很快就能覆盖整个染色体，而且无疑将有助于其他遗传性疾病的定位。

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引用本文的文献

1

Isolation of polymorphic DNA fragments from human chromosome 4.从人类4号染色体中分离多态性DNA片段。

Nucleic Acids Res. 1987 Feb 25;15(4):1445-58. doi: 10.1093/nar/15.4.1445.

本文引用的文献

1

The MNSs blood groups of families with chromosome 4 rearrangements.具有4号染色体重排的家族的MNSs血型

Ann Hum Genet. 1981 Feb;45(1):39-47. doi: 10.1111/j.1469-1809.1981.tb00304.x.

2

Assignment of the structural gene coding for albumin to human chromosome 4.将编码白蛋白的结构基因定位于人类第4号染色体。

Hum Genet. 1982;62(4):337-41. doi: 10.1007/BF00304551.

3

Human metallothionein genes--primary structure of the metallothionein-II gene and a related processed gene.人类金属硫蛋白基因——金属硫蛋白-II基因及一个相关加工基因的一级结构

Nature. 1982 Oct 28;299(5886):797-802. doi: 10.1038/299797a0.

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Renal ammoniagenesis during the adaptation to metabolic acidosis in man.

Contrib Nephrol. 1982;31:40-6. doi: 10.1159/000406614.

5

Linkage between dentinogenesis imperfecta and Gc.牙本质发育不全与维生素 D 结合蛋白（Gc）之间的联系。

Ann Hum Genet. 1982 Jan 1;46(1):35-40. doi: 10.1111/j.1469-1809.1982.tb00693.x.

6

Immunochemical evidence for hybrid sialoglycoproteins of human erythrocytes.人类红细胞杂交唾液酸糖蛋白的免疫化学证据。

Nature. 1981 May 14;291(5811):161-2. doi: 10.1038/291161a0.

7

Interleukin 2 (IL2) is assigned to human chromosome 4.白细胞介素2（IL2）定位于人类第4号染色体。

Somat Cell Mol Genet. 1984 May;10(3):315-8. doi: 10.1007/BF01535253.

8

Assignment of the leucocyte group five surface antigens to human chromosome 4.

Tissue Antigens. 1983 Mar;21(3):213-8. doi: 10.1111/j.1399-0039.1983.tb00160.x.

9

Assignment of the structural gene encoding human aspartylglucosaminidase to the long arm of chromosome 4 (4q21----4qter).将编码人天冬氨酰葡糖胺酶的结构基因定位于4号染色体长臂（4q21----4qter）。

Am J Hum Genet. 1984 Nov;36(6):1215-24.

10

Human formaldehyde dehydrogenase (FDH) and its assignment to chromosome 4.人类甲醛脱氢酶（FDH）及其在4号染色体上的定位。

Cytogenet Cell Genet. 1984;38(2):112-5. doi: 10.1159/000132041.

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