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Figure 2 | Journal of Translational Medicine

Figure 2

From: An intronic SNP in the thyroid hormone receptor β gene is associated with pituitary cell-specific over-expression of a mutant thyroid hormone receptor β2 (R338W) in the index case of pituitary-selective resistance to thyroid hormone

Figure 2

Haplotype assignment of the index case of PRTH. Direct sequencing the ICR and exon 9 of the THRB demonstrated that the patient carried the heterozygous genotypes C/A in rs17194828, C/T in rs2596623, and T/C in rs2596622, and the R338W mutation. Conversely, the unaffected daughter carries the heterozygous genotype C/A in rs17194828. The data thus indicate that the patient's mutant W338 allele is in cis with the rs2596623 T and rs2596622 C allele and the unaffected daughter inherited the maternal haplotype rs2596623C-rs2596622T, and R338.

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Journal of Translational Medicine

ISSN: 1479-5876

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