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| MOLECULAR DIAGNOSTICS FOR MYELIN PROTEOLIPID PROTEIN GENE-MUTATIONS IN PELIZAEUS-MERZBACHER DISEASE |
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| Author(s): DOLL R, NATOWICZ MR, SCHIFFMANN R, SMITH FI |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 51 Issue: 1 Pages: 161-169 Published: JUL 1992 |
| Times Cited: 40 References: 23 |
| Abstract: Pelizaeus-Merzbacher disease (PMD) is a clinically heterogeneous, slowly progressive leukodystrophy. The recent detection of mutations in the myelin proteolipid protein (PLP) gene in several PMD patients offers the opportunity both to design DNA-based tests that would be useful in diagnosing a proportion of PMD cases and, in particular, to evaluate the diagnostic utility of single-strand conformation polymorphism (SSCP) analysis for this disease. A combination of SSCP analysis and direct sequencing of PCR-amplified DNA was used to screen for PLP mutations in 24 patients affected with leukodystrophies of unknown etiology. Two heretofore undescribed mutations in the PLP gene were identified, Asp202His in exon 4 and Gly73Arg in exon 3. The ease and efficiency of SSCP analysis in detecting new mutations support the utilization of this technique in screening for PLP mutations in patients with unexplained leukodystrophies. |
| Document Type: Article |
| Language: English |
Addresses:
1. EUNICE KENNEDY SHRIVER CTR MENTAL RETARDAT INC, DIV BIOCHEM & MOLEC BIOL, 200 TRAPELO RD, WALTHAM, MA 02254 USA
2. EUNICE KENNEDY SHRIVER CTR MENTAL RETARDAT INC, DIV MED GENET, WALTHAM, MA 02254 USA
3. HARVARD UNIV, SCH MED, DEPT PATHOL, BOSTON, MA 02115 USA
4. MASSACHUSETTS GEN HOSP, DEPT PATHOL, BOSTON, MA 02114 USA
5. HADASSAH UNIV, MED CTR, PEDIAT NEUROL UNIT, JERUSALEM, ISRAEL |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: JA467 |
| ISSN: 0002-9297 |
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