Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family
نویسندگان
چکیده
Carrier of tyrosinemia type I was diagnosed by sequencing FAH (fumarylacetoacetate hydrolase) gene. It leads to the identification of heterozygous status for both c.648C>G (p.Ile216Met) and c.1159G>A (p.Gly387Arg) mutations in exons 8 and 13, respectively, in the parents. The experimental program PolyPhen, SIFT, and MT predicts former missense point mutation as "benign" that creates a potential donor splice site and later one as "probably damaging" which disrupts secondary structure of protein.
منابع مشابه
design and evaluation PCR primer for type 1 tyrosinemia patient from yasuj
Tyrosinemia is a rare autosomal recessive genetic disease caused by fumarylacetoacetate hydrolase deficiency. 40 different mutation have been recognized related to Tyrosinemia that could be found in all extend of the gene with higher frequency from exon 8 to 14. Because of the size of FAH gene it's impossible to Sequence whole length of the gene by one round of sequencing reaction. Aim of this ...
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عنوان ژورنال:
دوره 2012 شماره
صفحات -
تاریخ انتشار 2012