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DXS28 (C7) maps centromeric to DXS68 (L1-4) and DXS67 (B24) by deletion analysis.

作者信息

Towbin J A, Chamberlain J S, Wu D R, Pillers D A, Seltzer W K, McCabe E R

机构信息

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030.

出版信息

Genomics. 1990 Jul;7(3):442-4. doi: 10.1016/0888-7543(90)90181-s.

DOI:10.1016/0888-7543(90)90181-s
PMID:2163974
Abstract

Complex glycerol kinase deficiency (CGKD) is a contiguous gene syndrome consisting of glycerol kinase deficiency together with Duchenne muscular dystrophy (DMD), congenital adrenal hypoplasia, and/or Aland Island eye disease. Deletion mapping of genomic DNA from patients with CGKD was carried out and allowed definitive ordering of loci DXS28 (C7), DXS68 (L1-4), and DXS67 (B24). Most reports have placed DXS68 centromeric to DXS28 and DXS67 on the basis of the initial mapping of the Iowa patient 3, but others have presented evidence consistent with the placement of DXS28 telomeric to DXS68 and DXS67. Through the use of DNA from CGKD patients with a variety of genomic deletions, this controversy is resolved and the order Xcen...DMD-DXS28-DXS68-DXS67...pter is definitively demonstrated.

摘要

相似文献

1
DXS28 (C7) maps centromeric to DXS68 (L1-4) and DXS67 (B24) by deletion analysis.
Genomics. 1990 Jul;7(3):442-4. doi: 10.1016/0888-7543(90)90181-s.
2
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.
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
Fluorescence in situ hybridization establishes the order cen-DXS28(C7)-DXS67(B24)-DXS68(L1)-tel in human chromosome Xp21.3.
Genomics. 1992 Jun;13(2):455-7. doi: 10.1016/0888-7543(92)90271-s.
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
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.
7
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.
8
Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.用于杜兴氏肌营养不良基因座的互补DNA探针显示,一名患有营养不良性肌病、甘油激酶缺乏症和先天性肾上腺发育不全的患者存在以前无法检测到的缺失。
J Clin Invest. 1989 Jan;83(1):95-9. doi: 10.1172/JCI113890.
9
Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome.先天性肾上腺发育不全、杜氏肌营养不良症和甘油激酶缺乏症:实验室检查在明确连续性基因缺失综合征中的重要性。
Clin Chem. 1994 Nov;40(11 Pt 1):2099-103.
10
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.

引用本文的文献

1
Are cysteine-rich and COOH-terminal domains of dystrophin critical for sarcolemmal localization?肌营养不良蛋白富含半胱氨酸和COOH末端结构域对肌膜定位至关重要吗?
J Clin Invest. 1992 Feb;89(2):712-6. doi: 10.1172/JCI115640.
2
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.