AI Article Synopsis
- Thiamine-responsive megaloblastic anemia (TRMA) is a rare genetic syndrome marked by anemia, hearing loss, and diabetes, inherited in an autosomal recessive manner.
- A genome scan linked TRMA to a critical region at 1q23, later narrowed down to a 1.4-cM interval through studies of multiple Iranian families.
- The differing haplotypes in these families suggest that at least two separate genetic mutations are responsible for the disorder, aiding in the search for the specific genes involved.
Article Abstract
Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive syndrome characterized by megaloblastic anemia, deafness, and diabetes mellitus. A genome scan previously established linkage of this disorder to 1q23 and haplotype analysis defined a 16-cM critical region. Molecular genetic analyses of four unrelated multiplex Iranian families inheriting TRMA confirmed linkage to the same region and identified recombinant chromosomes which permitted refinement of the critical region to a narrow 1.4-cM interval. The haplotypes of the families differed, consistent with at least two independent mutational events. This refinement of the TRMA locus to less than 10% of that previously published should markedly facilitate the identification and evaluation of positional candidate and novel genes which may cause this disorder.
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| http://dx.doi.org/10.1006/mgme.1998.2799 | DOI Listing |
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