Genetic Analysis of the Glucose-6-phosphate Dehydrogenase Deficiency in a Southern Croatia

J. Terzić; V. Krželj; I. Drmić; Š Ancrossed D Signelinović; D. Primorac; J. Meštrović; L. Balarin

Genetic Analysis of the Glucose-6-phosphate Dehydrogenase Deficiency in a Southern Croatia

J. Terzić, V. Krželj, I. Drmić, Š Ancrossed D Signelinović, D. Primorac, J. Meštrović, L. Balarin

Forensic Science Program

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. G6PD Mediterranean is caused by a C → T transition at nucleotide 563, is characterized with less than 10% of normal enzyme activity and is classified as severe G6PD deficiency. Nineteen unrelated males from Southern Croatia with severe G6PD deficiency were tested, by enzyme digestion, for the presence of the Mediterranean mutation. Individuals with G6PD Mediterranean were further screened for the silent C → T transition at nucleotide 1311. Four of the nineteen individuals were positive for the Mediterranean mutation (21%) and all four had the silent mutation.

Original language	English (US)
Pages (from-to)	485-489
Number of pages	5
Journal	Collegium Antropologicum
Volume	22
Issue number	2
State	Published - Dec 1998

All Science Journal Classification (ASJC) codes

Anthropology
Arts and Humanities (miscellaneous)

Cite this

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title = "Genetic Analysis of the Glucose-6-phosphate Dehydrogenase Deficiency in a Southern Croatia",

abstract = "Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. G6PD Mediterranean is caused by a C → T transition at nucleotide 563, is characterized with less than 10% of normal enzyme activity and is classified as severe G6PD deficiency. Nineteen unrelated males from Southern Croatia with severe G6PD deficiency were tested, by enzyme digestion, for the presence of the Mediterranean mutation. Individuals with G6PD Mediterranean were further screened for the silent C → T transition at nucleotide 1311. Four of the nineteen individuals were positive for the Mediterranean mutation (21%) and all four had the silent mutation.",

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AU - Terzić, J.

AU - Krželj, V.

AU - Drmić, I.

AU - Ancrossed D Signelinović, Š

AU - Primorac, D.

AU - Meštrović, J.

AU - Balarin, L.

PY - 1998/12

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N2 - Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. G6PD Mediterranean is caused by a C → T transition at nucleotide 563, is characterized with less than 10% of normal enzyme activity and is classified as severe G6PD deficiency. Nineteen unrelated males from Southern Croatia with severe G6PD deficiency were tested, by enzyme digestion, for the presence of the Mediterranean mutation. Individuals with G6PD Mediterranean were further screened for the silent C → T transition at nucleotide 1311. Four of the nineteen individuals were positive for the Mediterranean mutation (21%) and all four had the silent mutation.

AB - Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. G6PD Mediterranean is caused by a C → T transition at nucleotide 563, is characterized with less than 10% of normal enzyme activity and is classified as severe G6PD deficiency. Nineteen unrelated males from Southern Croatia with severe G6PD deficiency were tested, by enzyme digestion, for the presence of the Mediterranean mutation. Individuals with G6PD Mediterranean were further screened for the silent C → T transition at nucleotide 1311. Four of the nineteen individuals were positive for the Mediterranean mutation (21%) and all four had the silent mutation.

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Genetic Analysis of the Glucose-6-phosphate Dehydrogenase Deficiency in a Southern Croatia

Abstract

All Science Journal Classification (ASJC) codes

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