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Sökning: WFRF:(GRANDELL U)

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  • Almqvist, E, et al. (författare)
  • Geographical distribution of haplotypes in Swedish families with Huntington's disease.
  • 1994
  • Ingår i: Human Genetics. - 0340-6717 .- 1432-1203. ; 94:2, s. 124-8
  • Tidskriftsartikel (refereegranskat)abstract
    • This study was planned to determine the number of origins of the mutation underlying Huntington's disease (HD) in Sweden. Haplotypes were constructed for 23 different HD families, using six different polymorphisms [(CCG)n, GT70, 674, BS1, E2 and 4.2], including two within the gene. In addition, extensive genealogical investigations were performed, and the geographical origin of the haplotypes was studied. Ten different haplotypes were observed suggesting multiple origins for the HD mutation in Sweden. Analysis of the two polymorphic markers within the HD gene (the CCG repeat and GT70) indicates that there are at least three origins for the HD mutation in Sweden. One of these haplotypes (7/A) accounts for 89% of the families, suggesting that the majority of the Swedish HD families are related through a single HD mutation of ancient origin. Furthermore, three of the families that were previously considered to be unrelated could be traced to a common ancestor in the 15th century, a finding that is consistent with this hypothesis.
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  • Omrani, MD, et al. (författare)
  • 17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings
  • 2011
  • Ingår i: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. - : S. Karger AG. - 1661-5433. ; 5:6, s. 273-276
  • Tidskriftsartikel (refereegranskat)abstract
    • 17-β-hydroxysteroid dehydrogenase type 3 (17-β-HSD 3) deficiency is an autosomal recessive form of 46,XY disorder of sex development (DSD). To date, a total of 27 <i>HSD17B3</i> gene mutations have been described in 46,XY patients exhibiting different phenotypes at birth and virilization at puberty, sometimes in association with gynecomastia. Herein, we investigate the 46,XY DSD in an Iranian family consisting of 7 siblings, 3 of which are affected and virilized at puberty. We clinically characterized these patients andperformed direct DNA sequencing of the steroid 5-α-reductase type 2<i> (SRD5A2)</i> and the <i>HSD17B3</i> gene, respectively. We identified a homozygous mutation in the <i>HSD17B3 </i>gene (R80W; c.238C>G) in all affected siblings. No mutation was detected in the <i>SRD5A2 </i>gene. The detected mutation in the <i>HSD17B3 </i>gene was previously described in a newborn child, who died from other congenital malformations, and in a 12-year-old girl. Hence, our report adds novel value to the phenotype classification of 17-β-HSD 3 deficiency.
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