caa a22 4500 469045175 CHVBK 20180323132822.0 cr unu---uuuuu 170328e19920301xx s 000 0 eng 10.1007/BF01799628 doi (NATIONALLICENCE)springer-10.1007/BF01799628 Gene analysis of mennonite maple syrup urine disease kindred using primer-specified restriction map modification [Elektronische Daten] [H. Mitsubuchi, I. Matsuda, Y. Nobukuni, R. Heidenreich, Y. Indo, F. Endo, J. Mallee, S. Segal] Summary: Maple syrup urine disease (MSUD) is an autosomal recessive inherited disease due to a deficiency of any of the subunits, E1α, E1β or E2, of the branched-chain α-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 E1α 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 E1α 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 E1α gene of BCKDH. SSIEM and Kluwer Academic Publishers, 1992 Mitsubuchi H. Department of Pediatrics, Kumamoto University Medical School, Honjo 1-1-1, 860, Kumamoto, Japan aut Matsuda I. Department of Pediatrics, Kumamoto University Medical School, Honjo 1-1-1, 860, Kumamoto, Japan aut Nobukuni Y. Department of Pediatrics, Kumamoto University Medical School, Honjo 1-1-1, 860, Kumamoto, Japan aut Heidenreich R. Division of Biochemical Development and Molecular Disease, The Children's Hospital of Philadelphia, Philadelphia, USA aut Indo Y. Department of Pediatrics, Kumamoto University Medical School, Honjo 1-1-1, 860, Kumamoto, Japan aut Endo F. Department of Pediatrics, Kumamoto University Medical School, Honjo 1-1-1, 860, Kumamoto, Japan aut Mallee J. Division of Biochemical Development and Molecular Disease, The Children's Hospital of Philadelphia, Philadelphia, USA aut Segal S. Division of Biochemical Development and Molecular Disease, The Children's Hospital of Philadelphia, Philadelphia, USA aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/2(1992-03-01), 181-187 0141-8955 15:2<181 1992 15 10545 https://doi.org/10.1007/BF01799628 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01799628 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Mitsubuchi H. Department of Pediatrics, Kumamoto University Medical School, Honjo 1-1-1, 860, Kumamoto, Japan aut NATIONALLICENCE 700 1- Matsuda I. Department of Pediatrics, Kumamoto University Medical School, Honjo 1-1-1, 860, Kumamoto, Japan aut NATIONALLICENCE 700 1- Nobukuni Y. Department of Pediatrics, Kumamoto University Medical School, Honjo 1-1-1, 860, Kumamoto, Japan aut NATIONALLICENCE 700 1- Heidenreich R. Division of Biochemical Development and Molecular Disease, The Children's Hospital of Philadelphia, Philadelphia, USA aut NATIONALLICENCE 700 1- Indo Y. Department of Pediatrics, Kumamoto University Medical School, Honjo 1-1-1, 860, Kumamoto, Japan aut NATIONALLICENCE 700 1- Endo F. Department of Pediatrics, Kumamoto University Medical School, Honjo 1-1-1, 860, Kumamoto, Japan aut NATIONALLICENCE 700 1- Mallee J. Division of Biochemical Development and Molecular Disease, The Children's Hospital of Philadelphia, Philadelphia, USA aut NATIONALLICENCE 700 1- Segal S. Division of Biochemical Development and Molecular Disease, The Children's Hospital of Philadelphia, Philadelphia, USA aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/2(1992-03-01), 181-187 0141-8955 15:2<181 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer