| 1. |
- Holmgren, G, et al.
(författare)
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Linkage of G8 (D4S10) in two Swedish families with Huntington's disease.
- 1987
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Ingår i: Clinical Genetics. - 0009-9163 .- 1399-0004. ; 32:5, s. 289-94
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Tidskriftsartikel (refereegranskat)abstract
- Two Swedish families with Huntington's disease (HD) have been investigated for linkage with G8 (D4S10). In one family from northern Sweden (Family 1) 48 family members were examined, and in another family from the southwestern part of Sweden (Family 2) 14 family members were examined. The lod scores were 1.531 for Family 1 and 2.057 for Family 2, and the combined lod score was 3.59. The HD gene was segregating with the haplotype C in Family 1 and with haplotype A in Family 2. The predictive value of the test was obvious. Before the testing with the G8 probe, 84.2% of the family members in Family 1 had a theoretical risk of 25% or 50% of having the HD gene. After the testing with the G8 probe, only 23.7% of the family members remained at the same risk, and it could also be certified that 63.2% had no or little risk of having the HD gene. Only one asymptomatic person was predicted to have HD.
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| 2. |
- Dahl, N, et al.
(författare)
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DNA linkage analysis of X-linked retinoschisis.
- 1988
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Ingår i: Human Genetics. - 0340-6717 .- 1432-1203. ; 78:3, s. 228-32
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Tidskriftsartikel (refereegranskat)abstract
- Four families with juvenile retionoschisis (RS) have been studied by linkage analysis utilizing eleven polymorphic X-chromosomal markers. The results suggest a close linkage between DXS43, DXS41, and DXS208 and the RS locus at Xp22. The RS locus is distal to the OTC locus, DXS84, and the DMD locus but proximal to DXS85. No recombination events were observed between the RS locus and DXS43 and DXS41. The maximum likelihood estimate of the recombination fraction (theta) was thus zero and the peak lod scores (z) were 4.98 (DXS43) and 4.09 (DXS41). The linkage data suggest that the gene order on Xp is DXS85-(DXS43, RS, DXS41)-DMD-DXS84-OTC.
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