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利用DNA序列多态性确定人类X等臂染色体的起源并检测一条带有Xp序列的明显i(Xq)。

Determining the origin of human X isochromosomes by use of DNA sequence polymorphisms and detection of an apparent i(Xq) with Xp sequences.

作者信息

Callen D F, Mulley J C, Baker E G, Sutherland G R

机构信息

Department of Histopathology, Adelaide Children's Hospital, Australia.

出版信息

Hum Genet. 1987 Nov;77(3):236-40. doi: 10.1007/BF00284476.

DOI:10.1007/BF00284476
PMID:3479386
Abstract

The parental origin of five X isochromosomes were determined using 11 DNA markers. The isochromosome was derived from a maternal X chromosome in three cases and from a paternal X chromosome in two. Unexpected heterozygosity was detected for the proximal Xp region in one individual in whom the i(Xq) chromosome was paternally derived. This was confirmed by in situ hybridisation. A mode of formation of isochromosomes by breakage and reunion between the sister chromatids of the arms of an X chromosome is proposed to account for this. Sister chromatid breakage and reunion can be considered as a significant mechanism for the origin of i(Xq) chromosomes.

摘要

使用11个DNA标记确定了5条X等臂染色体的亲本来源。在3例中，等臂染色体源自母源X染色体，2例源自父源X染色体。在1例i(Xq)染色体源自父方的个体中，检测到Xp近端区域存在意外的杂合性。这通过原位杂交得到了证实。为此提出了一种X染色体臂的姐妹染色单体之间通过断裂和重接形成等臂染色体的方式。姐妹染色单体的断裂和重接可被视为i(Xq)染色体起源的一个重要机制。

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Hum Genet. 1987 Nov;77(3):236-40. doi: 10.1007/BF00284476.
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本文引用的文献

1
How do human isochromosomes arise?人类等臂染色体是如何产生的？
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2
High-resolution chromosomal localization of human genes for amylase, proopiomelanocortin, somatostatin, and a DNA fragment (D3S1) by in situ hybridization.通过原位杂交对淀粉酶、阿片促黑激素皮质素原、生长抑素的人类基因以及一个DNA片段（D3S1）进行高分辨率染色体定位。
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A male with a monocentric Yq isochromosome and presence of a Yp-specific DNA sequence.
Xp11.2 内的大反向重复序列存在于 Turner 综合征等臂 X 染色体的断裂点处。
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Prenatal detection of short arm deletion and isochromosome 18 formation investigated by molecular techniques.通过分子技术对18号染色体短臂缺失和等臂染色体形成进行产前检测。
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Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation.与人类X染色体等臂染色体相关的断点的分子定义：对形成机制的启示
Am J Hum Genet. 1996 Jan;58(1):154-60.
6
Three Finnish incontinentia pigmenti (IP) families with recombinations with the IP loci at Xq28 and Xp11.三个芬兰色素失禁症（IP）家族，其Xq28和Xp11处的IP基因座发生了重组。
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7
Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development.由于等臂双着丝粒8p染色体导致的8三体综合征：一个可能参与胼胝体发育的基因的区域定位。
J Med Genet. 1994 Mar;31(3):238-41. doi: 10.1136/jmg.31.3.238.
8
Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation.一名生长发育迟缓儿童出现父源7号染色体短臂单亲等臂染色体和母源7号染色体长臂单亲等臂染色体。
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A regional localisation for an X-linked suppressor gene (XS) for the Lutheran blood group.
Hum Genet. 1988 Feb;78(2):127-9. doi: 10.1007/BF00278180.
10
The parental origin and mechanism of formation of three dicentric X chromosomes.三条双着丝粒X染色体的亲本来源及形成机制。
Hum Genet. 1988 Sep;80(1):81-4. doi: 10.1007/BF00451462.
一名男性患有单中心Yq等臂染色体且存在Yp特异性DNA序列。
Hum Genet. 1985;69(2):135-7. doi: 10.1007/BF00293283.
4
Morphology alone does not make an isochromosome.仅形态学特征不足以判定等臂染色体。
Hum Genet. 1986 Mar;72(3):253-5. doi: 10.1007/BF00291889.
5
Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques.重组DNA技术人类基因图谱委员会报告
Cytogenet Cell Genet. 1985;40(1-4):360-489. doi: 10.1159/000132180.
6
Dicentric chromosomes and the inactivation of the centromere.双着丝粒染色体与着丝粒失活
Hum Genet. 1986 Mar;72(3):191-5. doi: 10.1007/BF00291876.
7
Localization of the human haptoglobin genes distal to the fragile site at 16q22 using in situ hybridization.
Cytogenet Cell Genet. 1986;41(1):38-41. doi: 10.1159/000132193.
8
Linkage and genetic counselling for the fragile X using DNA probes 52A, F9, DX13, and ST14.使用DNA探针52A、F9、DX13和ST14对脆性X进行连锁分析和遗传咨询。
Am J Med Genet. 1987 Jun;27(2):435-48. doi: 10.1002/ajmg.1320270222.
9
Number of C-bands of human isochromosome Xqi and relation to 45,X mosaicism.人类X染色体长臂等臂染色体的C带数量及其与45,X嵌合体的关系。
J Med Genet. 1978 Jun;15(3):222-6. doi: 10.1136/jmg.15.3.222.