Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: Absence of hot spots.

Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: Absence of hot spots. Research Abstract Details 

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Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: Absence of hot spots. Abstract Text:

Piotr Kozlowski,John Bissler,York Pei,David J Kwiatkowski,Piotr Kozlowski,John Bissler,York Pei,David J Kwiatkowski,

Autosomal dominant polycystic kidney disease is largely due to mutations in PKD1. PKD1 has an unusual genomic structure, including a 2.5-kb polypyrimidine sequence in intron 21, which has been postulated to lead to a high rate of spontaneous genomic mutation events. In addition, the majority of the gene is duplicated three to six times at 97-99% identity elsewhere in the genome. To identify genomic mutations in PKD1, we developed a multiplex ligation-dependent probe assay (MLPA) in which sites of variation between PKD1 and its copies were positioned at the ligation sites of the MLPA probe sets. Thirteen probe sets covered PKD1 exons 2 through 46, at an average spacing of 2.5 kb. Analysis of 27 independent PKD patient samples showed no evidence for genomic deletions confined to PKD1. Analysis of 15 tuberous sclerosis patient samples in which deletions in TSC2 extended into PKD1 showed no evidence of clustering of breakpoints near the polypyrimidine tract.

Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: Absence of hot spots. Publishing Authors By Initials

P Kozlowski,J Bissler,Y Pei,DJ Kwiatkowski,P Kozlowski,J Bissler,Y Pei,DJ Kwiatkowski,

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Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: Absence of hot spots. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Genomics

VOLUME: 91

Page Numbers: 203-8

Journal Abbreviation: Genomics

ISSN: 0888-7543

DAY: 3

MONTH: 12

YEAR: 2007

Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: Absence of hot spots. Information

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LANGUAGE: eng

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Grant and Affiliation Information for Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: Absence of hot spots.

AFFILIATION: Translational Medicine Division, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.

Country: United States

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MEDLINETA: Genomics

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