Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2
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چکیده
منابع مشابه
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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15 صفحه اولChoroideremia. A report of three cases in three generations.
THE appearances of the fundi in choroideremia have fascinated ophthalmologists since the first cases were described by Mauthner (1871). This author differentiated the condition from retinitis pigmentosa. His two cases had night-blindness and constricted visual fields, but in addition there was marked choroidal atrophy giving a brilliant white appearance to the fundi, the retinal vessels were no...
متن کاملTwo 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...
متن کاملMolecular analysis of the choroideremia gene related clinical findings in two families with choroideremia
PURPOSE To investigate the choroideremia (CHM) gene in two families with CHM and to characterize the related clinical features. METHODS Two families underwent complete ophthalmic examinations and three males were diagnosed with CHM. Genomic DNA was extracted from the leukocytes of peripheral blood collected from the two families and from 100 unrelated control subjects from the same population...
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 1992
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/20.6.1434