Source:http://linkedlifedata.com/resource/pubmed/id/17660836
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
7
|
| pubmed:dateCreated |
2007-9-19
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| pubmed:abstractText |
To determine whether during hematopoietic stem cell transplantation (HSCT), X-chromosome inactivation (lyonization) of donor HSC might change after engraftment in recipients, the glucose-6-phosphate dehydrogenase (G6PD) gene of 180 female donors was genotyped by PCR/allele-specific primer extension, and MALDI-TOF mass spectrometry/Sequenom MassARRAY analysis. X-inactivation was determined by semiquantitative PCR for the HUMARA gene before/after HpaII digestion. X-inactivation was preserved in most cases post-HSCT, although altered skewing of lyonization might occur to either of the X-chromosomes. Among pre-HSCT clinicopathologic parameters analyzed, only recipient gender significantly affected skewing. Seven donors with normal G6PD biochemically but heterozygous for G6PD mutants were identified. Owing to lyonization changes, some donor-recipient pairs showed significantly different G6PD levels. In one donor-recipient pair, extreme lyonization affecting the wild-type G6PD allele occurred, causing biochemical G6PD deficiency in the recipient. In HSCT from asymptomatic female donors heterozygous for X-linked recessive disorders, altered lyonization might cause clinical diseases in the recipients.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Oct
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| pubmed:issn |
0268-3369
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| pubmed:author | |
| pubmed:issnType |
Print
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| pubmed:volume |
40
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
677-81
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| pubmed:meshHeading |
pubmed-meshheading:17660836-Adult,
pubmed-meshheading:17660836-Child, Preschool,
pubmed-meshheading:17660836-Chromosomes, Human, X,
pubmed-meshheading:17660836-DNA Primers,
pubmed-meshheading:17660836-Female,
pubmed-meshheading:17660836-Genotype,
pubmed-meshheading:17660836-Glucosephosphate Dehydrogenase,
pubmed-meshheading:17660836-Glucosephosphate Dehydrogenase Deficiency,
pubmed-meshheading:17660836-Hematopoietic Stem Cell Transplantation,
pubmed-meshheading:17660836-Heterozygote Detection,
pubmed-meshheading:17660836-Humans,
pubmed-meshheading:17660836-Male,
pubmed-meshheading:17660836-Middle Aged,
pubmed-meshheading:17660836-Polymerase Chain Reaction,
pubmed-meshheading:17660836-Polymorphism, Genetic,
pubmed-meshheading:17660836-Receptors, Androgen,
pubmed-meshheading:17660836-Reference Values,
pubmed-meshheading:17660836-Restriction Mapping,
pubmed-meshheading:17660836-Siblings,
pubmed-meshheading:17660836-Tissue Donors
|
| pubmed:year |
2007
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| pubmed:articleTitle |
G6PD deficiency from lyonization after hematopoietic stem cell transplantation from female heterozygous donors.
|
| pubmed:affiliation |
Department of Medicine, University of Hong Kong, Hong Kong, China.
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| pubmed:publicationType |
Journal Article
|