Article
Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone.
Thyroid : official journal of the American Thyroid Association - 1 Mar 2012
Sriphrapradang Chutintorn, German Alina, Dumitrescu Alexandra M, Refetoff Samuel
Abstract excerpt
BACKGROUND: Our laboratory identified six distinct inactivating TSHR gene mutations in Arab tribes living in Israel. We recently reported three nucleotide substitutions in exon 3 producing p.[L89L;Q90P] and one in exon 9 of the same allele producing p.P264S in Family A. Family B, reported herein, harbors the identical mutation in exon 3 only. We set to determine whether the mutations have common ancestral origin....
Topics
- Alleles
- Arabs
- Female
- Founder Effect
- Haplotypes
- Heterozygote
- Humans
- Israel
- Male
- Mutation
- Receptors, Thyrotropin
- Thyrotropin