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| MUTATIONS IN THE PDE6B GENE IN AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA |
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| Author(s): DANCIGER M, BLANEY J, GAO YQ, ZHAO DY, HECKENLIVELY JR, JACOBSON SG, FARBER DB |
| Source: GENOMICS Volume: 30 Issue: 1 Pages: 1-7 Published: NOV 1 1995 |
| Times Cited: 61 References: 28 |
| Abstract: We have studied 24 small families with presumed autosomal recessive inheritance of retinitis pigmentosa by a combination of haplotype analysis and exon screening. Initial analysis of the families was made with a dinucleotide repeat polymorphism adjacent to the gene for rod cGMP-phosphodiesterase (PDE6B). This was followed by denaturing gradient gel electrophoresis (DGGE) and single-strand conformation polymorphism electrophoresis (SSCPE) of the 22 exons and a portion of the 5' untranslated region of the PDE6B gene in the probands of each family in which the PDE6B locus could not be ruled out from segregating with disease. Two probands were found with compound heterozygous mutations: Gly576Asp and His620(1-bp del) mutations were present in one proband, and a Lys706X null mutation and an AG to AT splice acceptor site mutation in intron 2 were present in the other. Only the affecteds of each of the two families carried both corresponding mutations. (C) 1995 Academic Press, Inc. |
| Document Type: Article |
| Language: English |
| Reprint Address: DANCIGER, M (reprint author), UNIV CALIF LOS ANGELES, SCH MED, JULES STEIN EYE INST, LOS ANGELES, CA 90024 USA |
Addresses:
1. LOYOLA MARYMOUNT UNIV, LOS ANGELES, CA 90045 USA
2. UNIV MIAMI, BASCOM PALMER EYE INST, MIAMI, FL 33101 USA |
| Publisher: ACADEMIC PRESS INC JNL-COMP SUBSCRIPTIONS, 525B STREET, SUITE 1900, SAN DIEGO, CA 92101-4495 |
| Subject Category: Biotechnology & Applied Microbiology; Genetics & Heredity |
| IDS Number: TC727 |
| ISSN: 0888-7543 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |