Gene Analysis of Mennonite Maple Syrup Urine Disease Kindred Using Primer-specified Restriction Map Modification

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 1992 Jan 1

PMID 1356170

Citations 5

Authors

H Mitsubuchi

I Matsuda

Y Nobukuni

R Heidenreich

Y Indo

F Endo

J Mallee

S Segal

Affiliations

Soon will be listed here.

Abstract

Maple syrup urine disease (MSUD) is an autosomal recessive inherited disease due to a deficiency of any of the subunits, E1 alpha, E1 beta or E2, of the branched-chain alpha-ketoacid dehydrogenase complex (BCKDH). A large Mennonite kindred of MSUD has been studied in Pennsylvania, USA. In the present investigation, genomes from 70 members, including 12 patients belonging to eight different Mennonite MSUD pedigrees, were examined for possible abnormalities in the E1 alpha gene of BCKDH, by primer-specified restriction map modification. A T-to-A substitution which generates an asparagine in place of a tyrosine at amino acid 394 of the mature E1 alpha subunit was present in both alleles in all the patients and in a single allele in all obligate carriers and several siblings. We describe a new technique for rapid and easy detection of the mutant gene in this population. These family studies provide additional evidence that Mennonite MSUD is caused by a missense mutation of the E1 alpha gene of BCKDH

Citing Articles

Interrupting the mechanisms of brain injury in a model of maple syrup urine disease encephalopathy.

Zinnanti W, Lazovic J J Inherit Metab Dis. 2011; 35(1):71-9.

PMID: 21541722 DOI: 10.1007/s10545-011-9333-5.

Carrier detection and rapid newborn diagnostic test for the common Y393N maple syrup urine disease allele by PCR-RFLP: culturally permissible testing in the Mennonite community.

Dyer J, Grasela J, Hillman R, Phillips C J Inherit Metab Dis. 2001; 24(3):393-403.

PMID: 11486905 DOI: 10.1023/a:1010517005001.

Maple syrup urine disease 1954 to 1993.

Peinemann F, Danner D J Inherit Metab Dis. 1994; 17(1):3-15.

PMID: 8051937 DOI: 10.1007/BF00735389.

Maple syrup urine disease (MSUD): screening for known mutations in Italian patients.

Parrella T, Surrey S, Iolascon A, Sartore M, Heidenreich R, Diamond G J Inherit Metab Dis. 1994; 17(6):652-60.

PMID: 7707687 DOI: 10.1007/BF00712006.

Molecular diagnosis of maple syrup urine disease: screening and identification of gene mutations in the branched-chain alpha-ketoacid dehydrogenase multienzyme complex.

Nobukuni Y, Mitsubuchi H, Ohta K, AKABOSHI I, Indo Y, Endo F J Inherit Metab Dis. 1992; 15(5):827-33.

PMID: 1434524 DOI: 10.1007/BF01800029.

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