BIOCHEMICAL DIANOSIS OF COMMON GENE MUTATIONS IN GALACTOSEMIA

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MIRZAJANI F.; MIRFAKHRAEI R.; SAKI S.; HOUSHMAND M.; NAGHIBZADEH N.; NABATI F.; TALACHIAN E.

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Journal: Archives of Rehabilitation (Journal of Rehabilitation) Year:2005 | Volume:6 | Issue:1 (20) Page(s): 19-22

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Title

BIOCHEMICAL DIANOSIS OF COMMON GENE MUTATIONS IN GALACTOSEMIA

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Keywords

GALACTOSEMIAQ4

GALT GENEQ4

Q188R MUTATIONQ4

Abstract

Objective: GALACTOSEMIA is an inborn error of galactose metabolism that is inherited in an autosomal recessive trait. Classical GALACTOSEMIA is caused by deficient activity of the galactose -1-phosphate uridyltransferase (GALT) enzyme that can result in GALACTOSEMIA complications. Materials & Methods: 135 unrelated families, clinically suspected to GALACTOSEMIA, were screened by qualitative measurement of galactose-1-phosphate uridyl transferase (GALT) activity in blood RBCs using Beutler method. Results: Deficient enzyme activity (classical GALACTOSEMIA) was confirmed in 16 families. All of these 16 families were submitted to the diagnosis of six common mutations in GALT GENE including Q188R, K285N, S135L, L195P, X380R and Q169K using PCR-RFLP method which resulted in detection of 68% of the mutated alleles. 8 patients were homozygote for Q188R MUTATION, while one patient homozygote for S135L mutation and one heterozygote for K285N mutation were detected. Conclusion: Biochemnical diagnosis of GALACTOSEMIA in Grand infant hospital is very important and necessary.

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APA: Copy

MIRZAJANI, F., MIRFAKHRAEI, R., SAKI, S., HOUSHMAND, M., NAGHIBZADEH, N., NABATI, F., & TALACHIAN, E.. (2005). BIOCHEMICAL DIANOSIS OF COMMON GENE MUTATIONS IN GALACTOSEMIA. ARCHIVES OF REHABILITATION (JOURNAL OF REHABILITATION), 6(1 (20)), 19-22. SID. https://sid.ir/paper/43609/en

Vancouver: Copy

MIRZAJANI F., MIRFAKHRAEI R., SAKI S., HOUSHMAND M., NAGHIBZADEH N., NABATI F., TALACHIAN E.. BIOCHEMICAL DIANOSIS OF COMMON GENE MUTATIONS IN GALACTOSEMIA. ARCHIVES OF REHABILITATION (JOURNAL OF REHABILITATION)[Internet]. 2005;6(1 (20)):19-22. Available from: https://sid.ir/paper/43609/en

IEEE: Copy

F. MIRZAJANI, R. MIRFAKHRAEI, S. SAKI, M. HOUSHMAND, N. NAGHIBZADEH, F. NABATI, and E. TALACHIAN, “BIOCHEMICAL DIANOSIS OF COMMON GENE MUTATIONS IN GALACTOSEMIA,” ARCHIVES OF REHABILITATION (JOURNAL OF REHABILITATION), vol. 6, no. 1 (20), pp. 19–22, 2005, [Online]. Available: https://sid.ir/paper/43609/en

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