Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker
| ISSN: | 0964-6906 |
|---|---|
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c9d06dbe4a09dec2c784281dfad4780 https://pubmed.ncbi.nlm.nih.gov/7581388 |
| Přírůstkové číslo: | edsair.doi.dedup.....9c9d06dbe4a09dec2c784281dfad4780 |
| Autor: | B S Sayli, Mansoor Sarfarazi, A N Akarsu |
| Rok vydání: | 1995 |
| Předmět: |
Genetic Markers
Male Genetic Linkage Molecular Sequence Data Locus (genetics) Biology Gene mapping Genetics medicine Humans Syndactyly Molecular Biology Gene Genetics (clinical) DNA Primers Base Sequence Chromosome Mapping General Medicine medicine.disease Penetrance Synpolydactyly Pedigree HOXD13 Haplotypes Chromosomes Human Pair 2 Female Homeotic gene |
| Zdroj: | Human molecular genetics. 4(8) |
| ISSN: | 0964-6906 |
| Popis: | 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 (Lod 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')-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-D2 S1238-SPD- (HOXD8/D2S1244)-(D2S300/D2S138)-D2S148- D2S324- D2S1384-D2S434 [sequence:see text] was deduced from meiotic recombination events. |
| Databáze: | OpenAIRE |
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