لخّصلي

Identification of TMPRSS6 mutations Screening for mutations of TMPRSS6 coding sequence and exon-intron junctions of DNA from the study groups identi- fied 41 variants.At the time of this sequence analysis of our samples these two variants

TMPRSS6 gene in Saudi women with IDAThese vari- ants are distributed as follows: two variants were found in 50-UTR, 17 variants were located in introns and 22 variants located in exons.4 [2-6], respectively).3). 4[1]).

Identification of TMPRSS6 mutations
Screening for mutations of TMPRSS6 coding sequence and exon–intron junctions of DNA from the study groups identi- fied 41 variants. Thirty-three variants were reported in the literature and eight variants were novel (Fig. 3). These vari- ants are distributed as follows: two variants were found in 50-UTR, 17 variants were located in introns and 22 variants located in exons. From the two variants in 50-UTR, one was novel (g.-2 T > G; Fig. 4[1]). From the 17 variants in introns, 15 of which were known variants, and two variants werenovel(g.865+132C>Tandg.1371+120T>A).No variants were found in the parts sequenced from introns 1, 2, 8, 9, 13, 15, and 16. From the 22 variants in exons, 11 of which were synonymous, 11 nonsynonymous SNPs, and five were novel (p.W73X, p.D479N, p.E523K, p.L674L, p.I799I; Fig. 4 [2–6], respectively). At the time of this sequence analysis of our samples these two variants

TMPRSS6 gene in Saudi women with IDA