Document Detail

Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays.
MedLine Citation:
PMID:  17089405     Owner:  NLM     Status:  MEDLINE    
Infantile or complex glycerol kinase deficiency (cGKD) is a contiguous gene deletion syndrome caused by a loss of GK (MIM# 300474), along with its neighboring genes, Duchenne muscular dystrophy (DMD; MIM# 300377) and/or Nuclear Receptor Subfamily 0, Group B, Member 1 (NR0B1; MIM# 300473). Patients with cGKD present with glyceroluria and hyperglycerolemia in association with DMD and/or adrenal hypoplasia congenita (AHC). The purpose of these investigations was to determine whether the Affymetrix GeneChip Mapping Array (SNP chip) could be utilized to detect and map breakpoints in patients with cGKD. Genomic DNAs from several primary lymphoblastoid cell lines from patients with cGKD were analyzed on the Affymetrix platform. The Affymetrix SNP chip is a high-density oligonucleotide array that allows a standardized, parallel interrogation of thousands of SNPs across the entire genome (except for the Y chromosome). Analysis of the array features' hybridization intensities enabled clear delineation of the patient deletions with a high degree of confidence. Many of these patient deletions had been mapped by PCR and their breakpoints confirmed by sequencing. This study demonstrates the utility of the Affymetrix Mapping GeneChips for molecular cytogenetic analysis, beyond the SNP genotyping for which the arrays were initially designed. With one out of 160 live births (approximately 25,000 U.S. neonates annually) reported to have cytogenetic disorders, we envision a significant need for such a standardized platform to carry out rapid, high-throughput, genomic analyses for molecular cytogenetics applications.
Christopher M Stanczak; Zugen Chen; Yao-Hua Zhang; Stanley F Nelson; Edward R B McCabe
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Publication Detail:
Type:  Comparative Study; Evaluation Studies; Journal Article; Research Support, N.I.H., Extramural    
Journal Detail:
Title:  Human mutation     Volume:  28     ISSN:  1098-1004     ISO Abbreviation:  Hum. Mutat.     Publication Date:  2007 Mar 
Date Detail:
Created Date:  2007-02-05     Completed Date:  2007-03-16     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  United States    
Other Details:
Languages:  eng     Pagination:  235-42     Citation Subset:  IM    
Department of Human Genetics, David Geffen School of Medicine at the University of California Los Angeles, Los Angeles, California 90095-1752, USA.
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MeSH Terms
Cells, Cultured
Chromosome Deletion*
Chromosome Mapping / methods*
Chromosomes, Human, X*
Gene Dosage
Genetic Testing
Glycerol Kinase / deficiency*,  genetics
Microarray Analysis*
Polymorphism, Single Nucleotide
Random Allocation
Grant Support
Reg. No./Substance:
EC Kinase

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

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