Screening candidate genes for mutations in patients with hypogonadotropic hypogonadism using custom genome resequencing microarrays

American Journal of Obstetrics and Gynecology
Ning XuLawrence C Layman

Abstract

The purpose of this study was to determine the consistency of calling single nucleotide polymorphisms (SNPs) by custom genome resequencing microarrays compared with capillary DNA sequencing. Amplified genomic DNA from 23 patients with hypogonadotropic hypogonadism was hybridized to microarrays containing 30 kilobases of sequence from 6 different candidate genes. Capillary DNA sequencing was performed in 10 patients. For 10 patients with > or =90% of bases called, 49 SNPs in 5 of 6 genes were identified. Of the 490 bases, 75 were ambiguous (read as "N"), and 415 were able to be called an A, C, G, or T. Of 415 called, 401 (96.6%) sequences were confirmed by DNA sequencing. All homozygotes (285/285) were called identically, while sequence from 89.2% (116/130) of heterozygotes agreed by both methods. The level of agreement between microarray calls and capillary DNA sequencing demonstrated substantial accuracy. Custom genome resequencing microarrays are highly consistent with capillary sequencing in calling individual bases in genomic DNA from patients with human disease.

References

Jul 22, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Tonya LebetJennifer M Puck
Apr 8, 2006·Journal of Biotechnology·Martin KussmannMichael Affolter
Jan 5, 2011·American Journal of Medical Genetics. Part a·Lilia RomdhaneCollaborators

Citations

Jan 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·V C SheffieldR M Myers
Sep 30, 1994·Science·E S Lander, N J Schork
Feb 21, 1998·Proceedings of the National Academy of Sciences of the United States of America·R B WhiteR D Fernald
Oct 21, 1999·Molecular Genetics and Metabolism·Lawrence C Layman
Mar 19, 2002·Journal of Medical Genetics·Lawrence C Layman
Aug 29, 2003·Proceedings of the National Academy of Sciences of the United States of America·Nicolas de RouxEdwin Milgrom
Oct 24, 2003·The New England Journal of Medicine·Stephanie B SeminaraWilliam H Colledge

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