Glyoxalase I "null" Allele in a New Family: Identification by Abnormal Segregation Pattern and Quantitative Assay

Overview

Journal Hum Genet

Specialty Genetics

Date 1983 Jan 1

PMID 6885048

Citations 2

Authors

R S Sparkes

M C Sparkes

M Crist

C E Anderson

Affiliations

Soon will be listed here.

Abstract

A GLO-I "null" allele in a family was indicated by an abnormal segregation pattern and by half normal red cell enzyme activity in carriers. This is the third reported instance of this uncommon allele, and the first with confirmation by quantitation of enzyme activity.

Citing Articles

Role of advanced glycation endproducts and glyoxalase I in diabetic peripheral sensory neuropathy.

Jack M, Wright D Transl Res. 2012; 159(5):355-65.

PMID: 22500508 PMC: 3329218. DOI: 10.1016/j.trsl.2011.12.004.

Protection from diabetes-induced peripheral sensory neuropathy--a role for elevated glyoxalase I?.

Jack M, Ryals J, Wright D Exp Neurol. 2011; 234(1):62-9.

PMID: 22201551 PMC: 3294099. DOI: 10.1016/j.expneurol.2011.12.015.

References

PARR C, Bagster I, Welch S . Human red cell glyoxalase I polymorphism. Biochem Genet. 1977; 15(1-2):109-13. DOI: 10.1007/BF00484553. View

Rittner C, Weber W . Evidence for a 'silent allele' GLO0 at the glyoxalase I locus. Hum Genet. 1978; 42(3):315-8. DOI: 10.1007/BF00291312. View

Mohrenweiser H . Frequency of enzyme deficiency variants in erythrocytes of newborn infants. Proc Natl Acad Sci U S A. 1981; 78(8):5046-50. PMC: 320329. DOI: 10.1073/pnas.78.8.5046. View

Kompf J, Bissbort S, Gussmann S, Ritter H . Polymorphism of red cell glyoxalase I (EI: 4.4.1.5); a new genetic marker in man. Investigation of 169 mother-child combinations. Humangenetik. 1975; 27(2):141-3. DOI: 10.1007/BF00273329. View

Rubinstein P, Suciu-Foca N . Glyoxalase 1: a possible 'null' allele. Hum Hered. 1979; 29(4):217-20. DOI: 10.1159/000153047. View