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| THE GENE FOR AUTOSOMAL-DOMINANT SPINOCEREBELLAR ATAXIA (SCA1) MAPS CENTROMERIC TO D6S89 AND SHOWS NO RECOMBINATION, IN 9 LARGE KINDREDS, WITH A DINUCLEOTIDE REPEAT AT THE AM10 LOCUS |
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| Author(s): KWIATKOWSKI TJ, ORR HT, BANFI S, MCCALL AE, JODICE C, PERSICHETTI F, NOVELLETTO A, LEBORGNEDEMARQUOY F, DUVICK LA, FRONTALI M, SUBRAMONY SH, BEAUDET AL, TERRENATO L, ZOGHBI HY, RANUM LPW |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 53 Issue: 2 Pages: 391-400 Published: AUG 1993 |
| Times Cited: 32 References: 20 |
| Abstract: Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder which is genetically linked to the short arm of chromosome 6, telomeric to the human major histocompatibility complex (HLA) and very close to D6S89. Previous multipoint linkage analysis using HLA, D6S89, and SCA1 suggested that SCA1 maps centromeric to D6S89. Data from this study using nine large kindreds indicate a maximum lod score between SCA1 and D6S89 of 67.58 at a maximum recombination fraction of .004. To localize SCA1 more precisely, we identified five dinucleotide polymorphisms near D6S89. Genotypic analyses at these polymorphic loci were carried out in nine multigeneration SCA1 kindreds and in the Centre d'Etude du Polymorphisme Humain reference families. A new marker, AM10GA, demonstrates no recombination with SCA1. The maximum lod score for AM10GA linkage to SCA1 is 42.14 at a recombination fraction of 0. Linkage analysis and analysis of recombination events confirm that SCA1 maps centromeric to D6S89 and establish the following order: CEN-D6S109-AM10GA/SCA1-D6S89-LR40-D6S202-TEL. |
| Document Type: Article |
| Language: English |
| Reprint Address: KWIATKOWSKI, TJ (reprint author), BAYLOR COLL MED, INST MOLEC GENET, 1 BAYLOR PLAZA, HOUSTON, TX 77030 USA |
Addresses:
1. TOR VERGATA UNIV, DIPARTIMENTO BIOL, ROME, ITALY
2. CNR, IST MED SPERIMENTALE, ROME, ITALY
3. UNIV MISSISSIPPI, MED CTR, SCH MED, DEPT NEUROL, JACKSON, MS 39216 USA
4. BAYLOR COLL MED, DEPT PEDIAT, HOUSTON, TX 77030 USA
5. UNIV MINNESOTA, DEPT LAB MED & PATHOL, MINNEAPOLIS, MN 55455 USA
6. UNIV MINNESOTA, DEPT HUMAN GENET, MINNEAPOLIS, MN 55455 USA |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: LN820 |
| ISSN: 0002-9297 |
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