Molecular Abnormality of Erythrocyte Pyruvate Kinase Deficiency in the Amish
ثبت نشده
چکیده
We describe the cellular and molecular biologic studies of the erythrocyte pyruvate kinase (PK) deficiency of the Amish deme in Pennsylvania. Nucleotide sequencing of the patient's PK gene showed a point mutation, CGC to CAC, corresponding to no. 1436 from the translationafinitiatkn site of the R-type PK (R-PK) mRNA, and it caused a single amino acid substitution from Arg to His at the 479th amino acid residue of the R-PK. The substituted Arg residue is located in the C domain of PK subunit, that is essential for both the intersubunit contact and the allosteric regulation. Because
منابع مشابه
Prevalence of Pyruvate Kinase Deficiency among the Newborns (Shiraz-Iran)
Background: The frequency of pyruvate kinase (PK) deficiency, an autosomal recessive defect, is approximately 3 per 10,000 individuals in Shiraz and surrounding areas, and is increased due to high consanguinity marriage frequency. The purpose of this study is to obtain data on the frequency and spectrum of gene mutation of PK in newborns, from Shiraz and surrounding areas. Materials and Methods...
متن کاملMolecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish.
We describe the cellular and molecular biologic studies of the erythrocyte pyruvate kinase (PK) deficiency of the Amish deme in Pennsylvania. Nucleotide sequencing of the patient's PK gene showed a point mutation, CGC to CAC, corresponding to no. 1436 from the translational initiation site of the R-type PK (R-PK) mRNA, and it caused a single amino acid substitution from Arg to His at the 479th ...
متن کاملErythrocyte pyruvate kinase deficiency among anemic individuals in Bandar Abbas, Iran
Introduction: In addition to G6PD deficiency, human erythrocyte pyruvate kinase (PK-R) deficiency is one of the most common causes of non-spherocytic hemolytic anemia. Clinical severity of this disorder is not the same in homozygote form of this disease and ranges from mild to chronic and anemia; so it has a wide variation. Severely effected individuals require blood transfusions or splenectomy...
متن کاملFirst-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation.
Pyruvate kinase (PK) deficiency is a rare red cell glycolytic enzymopathy. The purpose of the present investigation was to offer prenatal diagnosis for PK deficiency to a couple who had a previous child with severe enzyme deficiency and congenital non-spherocytic hemolytic anemia. PK deficiency was identified in the family by assaying the enzyme activity in red cells. Chorionic villus sampling ...
متن کاملEvidence for a postsynthetic proteolytic transformation of human erythrocyte pyruvate kinase into L-type enzyme.
The relationship between liver (L-type) and erythrocyte pyruvate kinase remains a subject of discussion. It has been previously demonstrated that these enzymes are kinetically [ 1,2] and immunologltally [3-51 related. In some cases liver (Ltype) pyruvate kinase from patients with hereditary erythrocyte pyruvate kinase deficiency was shown to be defective [2,6-81. Erythrocyte and L-type enzymes,...
متن کامل