Literature DB >> 2961484

Linkage of G8 (D4S10) in two Swedish families with Huntington's disease.

G Holmgren1, E W Almqvist, M Anvret, M Conneally, W Hobbs, B Mattsson, J Wahlström, B Winblad, J F Gusella.   

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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Year:  1987        PMID: 2961484     DOI: 10.1111/j.1399-0004.1987.tb03292.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  3 in total

1.  The cellular and subcellular localization of huntingtin-associated protein 1 (HAP1): comparison with huntingtin in rat and human.

Authors:  C A Gutekunst; S H Li; H Yi; R J Ferrante; X J Li; S M Hersch
Journal:  J Neurosci       Date:  1998-10-01       Impact factor: 6.167

2.  Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate.

Authors:  G Holmgren; P M Costa; C Andersson; K Asplund; L Steen; L Beckman; P O Nylander; A Teixeira; M J Saraiva; P P Costa
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

3.  Modifications of transthyretin in amyloid fibrils: analysis of amyloid from homozygous and heterozygous individuals with the Met30 mutation.

Authors:  C Thylén; J Wahlqvist; E Haettner; O Sandgren; G Holmgren; E Lundgren
Journal:  EMBO J       Date:  1993-02       Impact factor: 11.598

  3 in total

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