Four RFLPS of the human insulin receptor gene: PstI, KpnI, RsaI (2 RFLPs)

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PstI and RsaI RFLPs in complete linkage disequilibrium at the CYP2E gene.

Source/Description: A 1.5 kb Apal-Apal fragment, containing 5' upstream sequences of the human CYP2E gene (1). Polymorphism: Pstl detects a two allele polymorphism with bands at 6.1 kb (Cl) or 3.9 and 2.2 kb (C2). Rsal detects a two allele polymorphism with bands at 1.4 and 0.5 kb (Cl) or 1.9 kb (C2). These two polymorphisms are in complete linkage disequilibrium with each other. Other Comments...

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Three RFLPs for the insulin receptor gene INSR: EcoRI, Pst I, Hind III.

SOURCE AND DESCRIPTION OF CLONE: A 973 bp cDNA insert from an adult human kidney library cloned in the EcoRI site of PBR 327 (pINSR 18.2) encoding aminoacids-26 to 295 of the insulin receptor. POLYMORPHISM EcoRI identifies a two allele polymorphism with bands at 22 fcb and 20 Kb Hind III detects two allelic fragments of 6.5 Kb and 1.4 kb Pst I reveals two allelic fragments of 2.

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Two RFLPs at the TNP1 locus.

Source/Description: The Human Transition Protein 1 gene (TNP1) probe (1) used was a 700 bp genomic DNA sequence cloned into the Smal site of pUC8 and was supplied by W.Engel. Polymorphisms: TNP1 identifies a two allele polymorphism with TaqI: Al = 9.6 kb; A2 = 8.4 kb. Frequency: Analysis of 20 unrelated individuals yielded frequencies: Al = 0.23; A2 = 0.77. Rsal in a screen of 10-20 unrelated i...

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Two RFLPs in human inter-alpha-trypsin inhibitor heavy chain gene ITIH2 on chromosome 10.

SOURCE AND DESCRIPTION OF CLONE : The 0.8 kb Eco RI / Bam HI fragment of lambda HuHITI-9 (1) used as a probe codes for human heavy chain H2 of the inter-alpha-trypsin inhibitor (2). POLYMORPHISMS : Kpn 1 (GGTAC/C) identifies one invariant band at 8.5 kb and a diaJlelic polymorphism with DNA fragments at 26.0 kb or 20.0 kb. Msp I (C/CGG) identifies three invariant bands at 2.35 kb, 2.1 kb and 1....

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Analysis of RFLPs and DNA deletions in the Chinese Duchenne muscular dystrophy gene.

Sixty-nine unrelated Chinese DMD patients were studied with a series of genomic and cDNA probes. Analysis of 13 polymorphic sites showed that pERT87-1, 87-8, 87-15, and XJ probes gave favourable allele frequencies in the Chinese population, and nearly 90% of the DMD families in this study were informative for prenatal diagnosis and carrier detection using these four polymorphic markers. Nine ou...

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ژورنال

عنوان ژورنال: Nucleic Acids Research

سال: 1988

ISSN: 0305-1048,1362-4962

DOI: 10.1093/nar/16.16.8204