Additional RFLPs at D10S94 and the development of PCR-based variant detection systems: implications for disease genotype prediction in MEN 2A, MEN 2B, and MTC1 families.
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Base Sequence↗
Biomedical subjects
D Smailus
Publications and source records attributed to D Smailus.
Identification and characterization of a gene at D10S94 in the MEN2A region.
We have identified a candidate for the gene responsible for multiple endocrine neoplasia type 2A (MEN 2A) at D10S94 in proximal 10q11.2. An evolutionarily conserved sequence from D10S94 was used as a probe to isolate cDNAs corresponding to a gene that we have termed mcs94-1. The gene spans 11 kb and has an unmethylated CpG island at its 5' end. The mcs94-1 transcript is approximately 2.4 kb in length and is widely expressed. It encodes a putative 415-amino-acid polypeptide that is similar in sequence to nucleolin, an abundant nucleolar protein. Mcs94-1 was examined as a candidate for MEN2A through nucleotide sequence analysis of mcs94-1 exons from an MEN 2A chromosome and its wildtype homologue from an MEN 2A patient. The major portion of the expressed mcs94-1 sequence was examined. No differences in sequence were found between the two alleles.
Amino Acid Sequence↗
An EcoRI RFLP at the D10S103 locus.
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Chromosomes, Human, Pair 10↗
Two polymorphisms at the D10S94 locus.
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Chromosome Mapping↗
Three polymorphisms at the D10S85 locus.
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Chromosome Mapping↗