Document Detail


X-linked lymphoproliferative disease. Detection of a paternally inherited mutation in a German family using haplotype analysis.
MedLine Citation:
PMID:  8249949     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: To study the inheritance of the X-linked lymphoproliferative disease (XLP) locus in a German family. DESIGN: Haplotype segregation analysis. SETTING: Departments of Pediatrics and Human Genetics, University of W?rzburg and University of Ulm, Federal Republic of Germany. PARTICIPANTS: Fourteen members of a family with XLP. INTERVENTIONS: None. MEASUREMENTS/MAIN RESULTS: Using molecular genetic techniques, we diagnosed the XLP status of the members of a German family. Restriction fragment length polymorphism analysis with closely linked polymorphic X-chromosomal DNA markers (Xq25-q27) revealed XLP carrier status in a female infant. Moreover, the XLP mutation was suggested to have occurred in the germ cell of the grandfather. CONCLUSION: This is the first report of a paternally inherited XLP mutation. The recurrence risk for germ cell mosaicism in XLP may be similar to that of X-linked Duchenne muscular dystrophy.
Authors:
V Schuster; W Kress; W Friedrich; T Grimm; H W Kreth
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of diseases of children (1960)     Volume:  147     ISSN:  0002-922X     ISO Abbreviation:  Am. J. Dis. Child.     Publication Date:  1993 Dec 
Date Detail:
Created Date:  1994-01-04     Completed Date:  1994-01-04     Revised Date:  2010-03-24    
Medline Journal Info:
Nlm Unique ID:  0370471     Medline TA:  Am J Dis Child     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1303-5     Citation Subset:  AIM; IM    
Affiliation:
Children's Hospital, University of W?rzburg, Germany.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Child, Preschool
Female
Genetic Markers
Haplotypes
Humans
Infant
Linkage (Genetics)
Lymphoproliferative Disorders / genetics*
Male
Molecular Sequence Data
Mutation*
Pedigree
X Chromosome*
Chemical
Reg. No./Substance:
0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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