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| PELIZAEUS-MERZBACHER DISEASE - DETECTION OF MUTATIONS THR181-]PRO AND LEU223-]PRO IN THE PROTEOLIPID PROTEIN GENE, AND PRENATAL-DIAGNOSIS |
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| Author(s): STRAUTNIEKS S, RUTLAND P, WINTER RM, BARAITSER M, MALCOLM S |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 51 Issue: 4 Pages: 871-878 Published: OCT 1992 |
| Times Cited: 37 References: 17 |
| Abstract: A family with an apparent history of X-linked Pelizaeus-Merzbacher disease presented for genetic counseling, requesting carrier detection and prenatal diagnosis. RFLP analysis using the proteolipid protein (PLP) gene probe was uninformative in this family. A prenatal diagnosis on a chorionic villus sample (CVS) was carried out using single-strand conformation polymorphism (SSCP) analysis of a variant in exon 4 of the PLP gene. The fetus was predicted to be unaffected. Sequencing of the exon from the CVS, the predicted-carrier mother, and the obligate-carrier grandmother revealed an A-to-C change at nucleotide 541 in the two women but not in the fetus. As this change results in a Thr-to-Pro change at amino acid 181 in a region of the gene predicted to be part of a transmembrane segment, it was concluded that this was the mutation causing the disease in this family. In addition, in a second family, an exon 5 variant band pattern on SSCP analysis was shown by sequencing to be due to a T-to-C change at nucleotide 668. This results in a Leu-to-Pro change in a carrier mother and in her two affected sons. These results provide further examples of mutations in PLP that cause Pelizaeus-Merzbacher disease and illustrate the value of SSCP in genetic analysis. |
| Document Type: Article |
| Language: English |
Addresses:
1. INST CHILD HLTH, MOLEC GENET UNIT, 30 GUILFORD ST, LONDON WC1N 1EH, ENGLAND
2. HOSP SICK CHILDREN, LONDON WC1N 3JH, ENGLAND
3. NORTHWICK PK HOSP & CLIN RES CTR, KENNEDY GALTON CTR, MRC, CLIN RES CTR, HARROW HA1 3UJ, MIDDX ENGLAND |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: JQ667 |
| ISSN: 0002-9297 |
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