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| CHOROIDEREMIA - LINKAGE ANALYSIS WITH PHYSICALLY MAPPED CLOSE DNA-MARKERS |
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| Author(s): SANKILA EM, SISTONEN P, CREMERS F, DELACHAPELLE A |
| Source: HUMAN GENETICS Volume: 87 Issue: 3 Pages: 348-352 Published: JUL 1991 |
| Times Cited: 6 References: 39 |
| Abstract: We report linkage studies in 18 choroideremia (TCD) families using four closely linked polymorphic markers. Probe pZ11, which is known to be deleted in several unrelated patients with TCD, showed no recombinations (Z(max) 15.63 at theta = 0.00). In contrast, one recombination was observed with DXS367, which is also physically very close to TCD. Loci DXS95 and DXYS69 each showed more than one recombination with TCD. Moreover, these analyses revealed a double crossover between TCD and DXYS1, changing the previously reported very close linkage to a recombination fraction of 0.04 with a lod score of 9.93. Multipoint linkage analysis placed TCD proximal to DXS95-DXYS69 and very close to DXS367-pZ11 with almost identical multipoint lod score maxima either proximal to DXS367 (Z(max) = 23.43) or proximal to pZ11 (Z(max) = 23.36). These results provide a refined linkage map around TCD and will also be useful in DNA diagnostics of the disease. |
| Document Type: Article |
| Language: English |
| Reprint Address: SANKILA, EM (reprint author), UNIV HELSINKI, DEPT MED GENET, HAARTMANINKATU 3, SF-00290 HELSINKI 29, FINLAND |
Addresses:
1. FOLKHALSAN INST GENET, SF-00101 HELSINKI, FINLAND
2. CATHOLIC UNIV NIJMEGEN, RADBOUD HOSP, DEPT HUMAN GENET, 6500 HB NIJMEGEN, NETHERLANDS |
| Publisher: SPRINGER VERLAG, 175 FIFTH AVE, NEW YORK, NY 10010 |
| Subject Category: Genetics & Heredity |
| IDS Number: FY516 |
| ISSN: 0340-6717 |
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