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人类X染色体短臂Xp21区域内甘油激酶缺乏症和先天性肾上腺发育不全的精细定位。

Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome.

作者信息

Davies K E, Patterson M N, Kenwrick S J, Bell M V, Sloan H R, Westman J A, Elsas L J, Mahan J

机构信息

Nuffield Department of Medicine, University of Oxford, John Radcliffe Hospital, United Kingdom.

出版信息

Am J Med Genet. 1988 Mar;29(3):557-64. doi: 10.1002/ajmg.1320290313.

DOI:10.1002/ajmg.1320290313
PMID:2837087
Abstract

We have studied patients with Duchenne muscular dystrophy (DMD), DMD together with glycerol kinase (GK) deficiency, or DMD together with both GK deficiency and congenital adrenal hypoplasia (AHC). Analysis of deletions in these patients allows the mapping of these mutations in Xp21. The following order is proposed: Xpter - L1 - AHC - GK - DMD - Xcen. One of the boys with DMD, GK, and AHC is shown by pulsed-field-gel electrophoresis to have a deletion which has a proximal endpoint at least 500 kb distal from the pERT87 (DXS164) locus.

摘要

我们研究了患有杜氏肌营养不良症（DMD）、伴有甘油激酶（GK）缺乏症的DMD或同时伴有GK缺乏症和先天性肾上腺发育不全（AHC）的DMD患者。对这些患者的缺失进行分析有助于在Xp21区域定位这些突变。提出了以下顺序：Xpter - L1 - AHC - GK - DMD - Xcen。其中一名患有DMD、GK和AHC的男孩经脉冲场凝胶电泳显示存在一种缺失，其近端端点距离pERT87（DXS164）基因座至少500 kb远。

相似文献

1
Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome.人类X染色体短臂Xp21区域内甘油激酶缺乏症和先天性肾上腺发育不全的精细定位。
Am J Med Genet. 1988 Mar;29(3):557-64. doi: 10.1002/ajmg.1320290313.
2
Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.复杂型甘油激酶缺乏症：5例日本患者的分子遗传学、细胞遗传学及临床研究
Am J Med Genet. 1988 Nov;31(3):603-16. doi: 10.1002/ajmg.1320310315.
3
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.阿兰岛眼病（福修斯-埃里克森眼部白化病）与一名患有杜氏肌营养不良、甘油激酶缺乏症和先天性肾上腺发育不全患者的Xp21缺失。
Am J Med Genet. 1990 May;36(1):23-8. doi: 10.1002/ajmg.1320360106.
4
Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.一名患有杜氏肌营养不良症、甘油激酶缺乏症和肾上腺发育不全的男孩，其DXS68位点（L1探针位点）近端存在缺失。
Hum Genet. 1988 Mar;78(3):222-7. doi: 10.1007/BF00291665.
5
Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia.伴有甘油激酶缺乏和先天性肾上腺发育不全的Xp21.2家族性缺失。
Hum Genet. 1987 Dec;77(4):379-83. doi: 10.1007/BF00291430.
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Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.
J Pediatr. 1986 Feb;108(2):189-92. doi: 10.1016/s0022-3476(86)80980-5.
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Mental retardation locus in Xp21 chromosome microdeletion.Xp21染色体微缺失中的智力迟钝基因座。
Am J Med Genet. 1993 Jun 1;46(4):363-8. doi: 10.1002/ajmg.1320460404.
8
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.先天性肾上腺发育不全、肌病与甘油激酶缺乏症：缺失的分子遗传学证据
Am J Hum Genet. 1987 Mar;40(3):212-27.
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Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy.
Lancet. 1986 Mar 15;1(8481):585-7. doi: 10.1016/s0140-6736(86)92811-4.
10
Gene deletion analysis of a Chinese boy with Xp21 contiguous gene deletion syndrome.一名患有Xp21连续基因缺失综合征的中国男孩的基因缺失分析。
Chin Med J (Engl). 2004 May;117(5):789-91.

引用本文的文献

1
Isolated and contiguous glycerol kinase gene disorders: a review.孤立性和连续性甘油激酶基因疾病：综述
J Inherit Metab Dis. 2000 Sep;23(6):529-47. doi: 10.1023/a:1005660826652.
2
Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait.甘油作为糖耐量受损的一个关联因素：利用简单遗传性状剖析复杂系统。
Am J Hum Genet. 2000 May;66(5):1558-68. doi: 10.1086/302903. Epub 2000 Mar 27.
3
Mutations and phenotype in isolated glycerol kinase deficiency.孤立性甘油激酶缺乏症中的突变与表型
Am J Hum Genet. 1996 Jun;58(6):1205-11.
4
Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus.利用针对杜氏肌营养不良症基因座的cDNA探针来鉴定甘油激酶缺乏症患者。
Hum Genet. 1989 Sep;83(2):122-6. doi: 10.1007/BF00286703.
5
Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.
Am J Hum Genet. 1990 Nov;47(5):795-801.
6
Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.
Hum Genet. 1991 Feb;86(4):414-5. doi: 10.1007/BF00201848.
7
Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints.Xp21连续基因综合征：采用双变量流式核型分析进行缺失定量可对患者断点进行定位。
Am J Hum Genet. 1992 Dec;51(6):1277-85.