LOCALIZATION OF THE SYNDACTYLY TYPE-II (SYNPOLYDACTYLY) LOCUS TO 2Q31 REGION AND IDENTIFICATION OF TIGHT LINKAGE TO HOXD8 INTRAGENIC MARKER


SARFARAZI M., AKARSU A. N. , SAYLI B.

HUMAN MOLECULAR GENETICS, cilt.4, sa.8, ss.1453-1458, 1995 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 4 Konu: 8
  • Basım Tarihi: 1995
  • Doi Numarası: 10.1093/hmg/4.8.1453
  • Dergi Adı: HUMAN MOLECULAR GENETICS
  • Sayfa Sayıları: ss.1453-1458

Özet

Syndactyly type II (SynPolyDactyly; SPD) is an autosomal dominant condition with incomplete penetrance and variable expressivity. Sixty-two meioses from a kindred with 425 individuals were used to map the SPD locus to 2q31 region, approximately 1.7 cM (Led score = 12.96) centromeric to HOXD8 intragenic marker, Other homeobox-containing genes in this region have previously been ordered as cen-DLX1/DLX2-EVX2-(5'-->HOXD13..HOXD8..HOXD1-->3')-tel. A single recombinant with HOXD8 excluded the most 3' end of HOXD cluster as a candidate site for SPD, but a mutation in the 5' end of HOXD cluster, especially in HOXD13, EVX2 or DLX2/DLX1, may still be responsible for this phenotype, An updated order of D2S142-D2S111 - (D2S335/D2S333) - D2S326 - D2S1238 - SPD - (HOXD8/D2S1 244) - (D2S30/fD2S138) - D2S148 - D2S324 - D2S1384-D2S434 was deduced from meiotic recombination events.