A split hand-split foot (SHFM3) gene is located at 10q24-->25

Eugenio Sangiorgi, Fiorella Gurrieri, Giovanni Neri

Risultato della ricerca: Contributo in rivistaArticolo in rivista

54 Citazioni (Scopus)

Abstract

The split hand-split foot (SHSF) malformation affects the central rays of the upper and lower limbs. It presents either as an isolated defect or in association with other skeletal or non-skeletal abnormalities. An autosomal SHSF locus (SHFM1) was previously mapped to 7q22.1. We report the mapping of a second autosomal SHSF locus to 10q24-->25. A panel of families was tested with 17 marker loci mapped to the 10q24-->25 region. Maximum lod scores of 3.73, 4.33 and 4.33 at a recombination fraction of zero were obtained for the loci D10S198, PAX2 and D10S1239, respectively. An 19 cM critical region could be defined by haplotype analysis and several genes with a potential role in limb morphogenesis are located in this region. Heterogeneity testing indicates the existence of at least one additional autosomal SHSF locus.
Lingua originaleEnglish
pagine (da-a)427-436
Numero di pagine10
RivistaAmerican Journal of Medical Genetics
Volume62
DOI
Stato di pubblicazionePubblicato - 1996

Keywords

  • Abnormalities, Multiple
  • Chromosome Mapping
  • Chromosomes, Human, Pair 10
  • Female
  • Foot Deformities, Congenital
  • Hand Deformities, Congenital
  • Humans
  • Male
  • Pedigree

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