利用变性梯度凝胶电泳检测到的多态性，将Gs-α亚基基因（GNAS1）定位于20号染色体长臂远端。 - Suppr

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超能文献

Genetic mapping of the Gs-alpha subunit gene (GNAS1) to the distal long arm of chromosome 20 using a polymorphism detected by denaturing gradient gel electrophoresis.

作者信息

Gejman P V, Weinstein L S, Martinez M, Spiegel A M, Cao Q, Hsieh W T, Hoehe M R, Gershon E S

机构信息

Clinical Neurogenetics Branch, NIMH, National Institutes of Health, Bethesda, Maryland 20892.

出版信息

Genomics. 1991 Apr;9(4):782-3. doi: 10.1016/0888-7543(91)90377-q.

DOI:10.1016/0888-7543(91)90377-q

PMID:1674732

Abstract

摘要

相似文献

Genetic mapping of the Gs-alpha subunit gene (GNAS1) to the distal long arm of chromosome 20 using a polymorphism detected by denaturing gradient gel electrophoresis.利用变性梯度凝胶电泳检测到的多态性，将Gs-α亚基基因（GNAS1）定位于20号染色体长臂远端。

Genomics. 1991 Apr;9(4):782-3. doi: 10.1016/0888-7543(91)90377-q.

Polymorphism of the gene encoding the alpha subunit of the stimulatory G-protein of adenylyl cyclase (GNAS1).腺苷酸环化酶刺激性 G 蛋白α亚基编码基因（GNAS1）的多态性。

Hum Genet. 1994 Apr;93(4):477-8. doi: 10.1007/BF00201682.

Detection of mutations and polymorphisms of Gs alpha subunit gene by denaturing gradient gel electrophoresis.利用变性梯度凝胶电泳检测Gsα亚基基因的突变和多态性。

Methods Enzymol. 1994;237:308-20. doi: 10.1016/s0076-6879(94)37071-0.

Detection of human DNA polymorphisms with a simplified denaturing gradient gel electrophoresis technique.采用简化的变性梯度凝胶电泳技术检测人类DNA多态性。

Proc Natl Acad Sci U S A. 1987 May;84(10):3339-43. doi: 10.1073/pnas.84.10.3339.

A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy.一名患有奥尔布赖特遗传性骨营养不良症的患者，其Gsα基因（GNAS1）存在杂合性4碱基缺失突变。

Genomics. 1992 Aug;13(4):1319-21. doi: 10.1016/0888-7543(92)90056-x.

Parental origin of transcription from the human GNAS1 gene.人类GNAS1基因转录的亲本来源

J Med Genet. 1994 Aug;31(8):607-14. doi: 10.1136/jmg.31.8.607.

The use of denaturing gradient gel electrophoresis to screen for DNA sequence polymorphisms in the human factor VIII gene.使用变性梯度凝胶电泳筛选人凝血因子VIII基因中的DNA序列多态性。

Electrophoresis. 1989 May-Jun;10(5-6):390-6. doi: 10.1002/elps.1150100517.

Dinucleotide repeat polymorphism in Gs-alpha subunit gene (GNAS1) on chromosome 20.位于20号染色体上的Gs-α亚基基因（GNAS1）中的二核苷酸重复多态性。

Nucleic Acids Res. 1991 Aug 25;19(16):4569. doi: 10.1093/nar/19.16.4569-a.

Identification of polymorphisms by genomic denaturing gradient gel electrophoresis: application to the proximal region of human chromosome 21.通过基因组变性梯度凝胶电泳鉴定多态性：应用于人类21号染色体近端区域

Nucleic Acids Res. 1991 Apr 11;19(7):1475-81. doi: 10.1093/nar/19.7.1475.

Characterization of a de novo 43-bp deletion of the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy.奥尔布赖特遗传性骨营养不良中Gsα基因（GNAS1）43bp新发缺失的特征分析

Genomics. 1994 May 15;21(2):455-7. doi: 10.1006/geno.1994.1297.

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Pharmacol Ther. 2007 Aug;115(2):271-91. doi: 10.1016/j.pharmthera.2007.03.013. Epub 2007 Apr 21.

Paternal versus maternal transmission of a stimulatory G-protein alpha subunit knockout produces opposite effects on energy metabolism.刺激性G蛋白α亚基基因敲除的父系与母系传递对能量代谢产生相反影响。

J Clin Invest. 2000 Mar;105(5):615-23. doi: 10.1172/JCI8437.

Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.单个基因的双向印记：GNAS1编码来自母本、父本和双等位基因的蛋白质。

Proc Natl Acad Sci U S A. 1998 Dec 22;95(26):15475-80. doi: 10.1073/pnas.95.26.15475.

The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.导致I b型假性甲状旁腺功能减退的基因是父系印记基因，在四个不相关的家族中定位于20号染色体长臂13.3区。

Proc Natl Acad Sci U S A. 1998 Sep 29;95(20):11798-803. doi: 10.1073/pnas.95.20.11798.

Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene.异源三聚体Gs蛋白α亚基（Gsα）基因敲除小鼠中存在的可变且组织特异性的激素抵抗是由于Gsα基因的组织特异性印记所致。

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