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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1994-8-19
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pubmed:abstractText |
Isodisomy (ID) is a genetic anomaly defined as the inheritance of two copies of the same genetic material from one parent. ID in an offspring is a rare cause of recessive genetic diseases via inheritance of two copies of a mutated gene from one carrier parent. We studied a newborn female with a mut(o) of methylmalonic acidemia and complete absence of insulin-producing beta cells in otherwise normal-appearing pancreatic islets, causing insulin-dependent diabetes mellitus. The patient died 2 wk after birth. Serotyping of the HLA antigens, DNA typing of HLA-B and HLA class II loci, study of polymorphic DNA markers of chromosome 6, and cytogenetic analysis demonstrated paternal ID, involving at least a 25-centiMorgan portion of the chromosome pair that encompasses the MHC. ID probably caused methylmalonic acidemia by duplication of a mutated allele of the corresponding gene on the chromosome 6 inherited from the father. It is also very likely that ID was etiologically related to the agenesis of beta cells and consequent insulin-dependent diabetes mellitus in our patient. We thus speculate on the existence of a gene on chromosome 6 involved in beta cell differentiation.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/7913714-1130120,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7913714-1293088,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7913714-1916824,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7913714-2063871,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7913714-2384609,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7913714-2433337,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7913714-2449974,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7913714-2897160,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7913714-3287175,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7913714-7192492,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7913714-8097481,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7913714-8146859,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7913714-8314439,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7913714-8358429,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7913714-8362910,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7913714-8432543
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0021-9738
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
94
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
418-21
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:7913714-Amino Acid Metabolism, Inborn Errors,
pubmed-meshheading:7913714-Chromosome Aberrations,
pubmed-meshheading:7913714-Chromosomes, Human, Pair 6,
pubmed-meshheading:7913714-Diabetes Mellitus, Type 1,
pubmed-meshheading:7913714-Female,
pubmed-meshheading:7913714-Genes, MHC Class I,
pubmed-meshheading:7913714-Genes, MHC Class II,
pubmed-meshheading:7913714-Humans,
pubmed-meshheading:7913714-Infant, Newborn,
pubmed-meshheading:7913714-Islets of Langerhans,
pubmed-meshheading:7913714-Methylmalonic Acid,
pubmed-meshheading:7913714-Methylmalonyl-CoA Mutase,
pubmed-meshheading:7913714-Pedigree
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pubmed:year |
1994
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pubmed:articleTitle |
Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.
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pubmed:affiliation |
Department of Genetics, University Hospital Erasme, Brussels, Belgium.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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