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A split hand-split foot (SHFM3) gene is located at 10q24-->25
F Gurrieri1, P Prinos, D Tackels
1Institute of Medical Genetics, Catholic University of Rome, Italy.
American Journal of Medical Genetics
|April 24, 1996
Summary
Researchers identified a new genetic locus for split hand-split foot malformation on chromosome 10q24-q25. This finding, SHFM2, suggests genetic heterogeneity for this limb development disorder.
Area of Science:
- Genetics
- Developmental Biology
- Medical Research
Background:
- Split hand-split foot malformation (SHSF) is a congenital limb defect affecting central ray development.
- SHSF can occur as an isolated condition or with other abnormalities.
- A previous locus (SHFM1) was mapped to chromosome 7q22.1.
Purpose of the Study:
- To map a second autosomal locus for SHSF.
- To investigate the genetic basis of SHSF malformation.
Main Methods:
- Genetic linkage analysis was performed on families with SHSF.
- Seventeen marker loci in the 10q24-q25 region were tested.
- Haplotype analysis was used to define a critical region.
Main Results:
- A novel SHSF locus, designated SHFM2, was mapped to 10q24-q25.
- Significant lod scores were obtained for loci D10S198, PAX2, and D10S1239.
- A critical region of 19 cM was defined, containing potential limb morphogenesis genes.
- Evidence for genetic heterogeneity, indicating at least one other SHSF locus, was found.
Conclusions:
- The study successfully mapped a second autosomal SHSF locus to 10q24-q25 (SHFM2).
- This discovery highlights genetic heterogeneity in SHSF malformations.
- Further research in the identified critical region may reveal key genes involved in limb development.