Screening of ass1 gene in two Saudi families from al-madinah al-monawarah with citrullinemia disorder (original) (raw)
2018, International Journal of Molecular Biology
Background: Citrullinemia type 1 is an inherited autosomal recessive disease and a member of Urea Cycle Disorders (UCD), 1 characterized by accumulation of ammonia in the blood as a result of defect in enzyme called "argininosuccinate synthetase" (ASAS), which is responsible for converting citrulline to arginine. Signs and symptoms appear after birth, if untreated CTLN1 may progress to coma or death. Purpose: To Screen ASS1 gene in two Saudi families with citrullinemia disorder (one affected family and the other is a carrier) from AL-Madinah AL-Monawarah. Define mutations may help in treatment and cure progress for patients. Methods: Genetic analysis using sequencing technology was carried out to detect mutations in ASS1 gene. Results: Two Mutations were detected. First family affected and unaffected members (III:3, II:2) have a homozygous missense variant in exon 7 (c.501 C>T, p.166 His>His). While in second family affected member (III:1) has a homozygous splice site mutation in exon 5 (c.364-2 A>G) and unaffected member (II:2) has a heterozygous mutation in exon 5 (c.371 A>T) of ASS1 gene. Conclusion: Missense and splice site mutations were found in both affected and carrier members, homozygous and heterozygous respectively. The splice site region is important because mutations in these areas may lead to entire exon being spliced out of the mRNA. A heterozygous mutation makes individual a carrier of the disease. Research Objectives A. Main objective: To Screen ASS1 Gene in Two Saudi Families with Citrullinemia Disorder in AL-Madinah AL-Monawarah B. Specific objectives: To screen ASS1 gene in Saudi families by ABI 3500 genetic analyzer. To compare ASS1 sequence in affected individuals and his/her unaffected family members.
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