لخّصلي

The complete sequencing of the coding region and intron/exon junction TMPRSS6 gene (Reference Sequence

NM_153609.3) was performed among 98 Saudi females in the current study.To the best of our knowledge, there is no previous study that identified this mutation in any population or database; therefore, it is a novel variant.Thirty-three variants were previously reported in the Single Nucleotide Polymorphism Database (dbSNP) and eight variants were novel (1 located in 50 UTR, 2 in introns and 5 were within exons).The size of the sequenced DNA was approximately 664 kb. Forty-one variants were detected; two variants were found in 50 UTR, 17 variants were located in introns, and 22 were variants located in exons.About 6.8 kb was sequenced for each participant.

The complete sequencing of the coding region and
intron/exon junction TMPRSS6 gene (Reference Sequence

NM_153609.3) was performed among 98 Saudi females in
the current study. About 6.8 kb was sequenced for each participant. The size of the sequenced DNA was approximately
664 kb. Forty-one variants were detected; two variants
were found in 50 UTR, 17 variants were located in introns,
and 22 were variants located in exons. Thirty-three variants
were previously reported in the Single Nucleotide Polymorphism Database (dbSNP) and eight variants were novel (1
located in 50 UTR, 2 in introns and 5 were within exons).
No variants were found in exons 4, 6, 8, 10, and 15. To
the best of our knowledge, there has been no previous
report that identified g.-2 T > G variants in any population
or database. Therefore, it is considered a novel variant in
our study. This polymorphism could affect the gene expression. In exon 2 G > A nucleotide, a substitution at position
219 (c.219G > A) was detected. This base substitution generates nonsense mutation, where tryptophan changed to a premature stop codon (p.W73X). This genetic variation
was observed in one of IDA and one of IRIDA patients in a
heterozygous state. These two patients had lower Hb levels,
lower ferritin levels, and more variability in red cell size. To
the best of our knowledge, there is no previous study that
identified this mutation in any population or database;
therefore, it is a novel variant.