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FLCN intragenic deletions in Chinese familial primary spontaneous pneumothorax
American journal of medical genetics. Part A, 2015-05, Vol.167A (5), p.1125-1133
Ding, Yibing
Zhu, Chengchu
Zou, Wei
Ma, Dehua
Min, Haiyan
Chen, Baofu
Ye, Minhua
Pan, Yanqing
Cao, Lei
Wan, Yueming
Zhang, Wenwen
Meng, Lulu
Mei, Yuna
Yang, Chi
Chen, Shilin
Gao, Qian
Yi, Long
2015
Details
Autor(en) / Beteiligte
Ding, Yibing
Zhu, Chengchu
Zou, Wei
Ma, Dehua
Min, Haiyan
Chen, Baofu
Ye, Minhua
Pan, Yanqing
Cao, Lei
Wan, Yueming
Zhang, Wenwen
Meng, Lulu
Mei, Yuna
Yang, Chi
Chen, Shilin
Gao, Qian
Yi, Long
Titel
FLCN intragenic deletions in Chinese familial primary spontaneous pneumothorax
Ist Teil von
American journal of medical genetics. Part A, 2015-05, Vol.167A (5), p.1125-1133
Ort / Verlag
United States: Blackwell Publishing Ltd
Erscheinungsjahr
2015
Link zum Volltext
Quelle
Wiley Online Library - AutoHoldings Journals
Beschreibungen/Notizen
Primary spontaneous pneumothorax (PSP) is a significant clinical problem, affecting tens of thousands patients annually. Germline mutations in the FLCN gene have been implicated in etiology of familial PSP (FPSP). Most of the currently identified FLCN mutations are small indels or point mutations that detected by Sanger sequencing. The aim of this study was to determine large FLCN deletions in PSP families that having no FLCN sequence‐mutations. Multiplex ligation‐dependent probe amplification (MLPA) assays and breakpoint analyses were used to detect and characterize the deletions. Three heterozygous FLCN intragenic deletions were identified in nine unrelated Chinese families including the exons 1–3 deletion in two families, the exons 9–14 deletion in five families and the exon 14 deletion in two families. All deletion breakpoints are located in Alu repeats. A 5.5 Mb disease haplotype shared in the five families with exons 9–14 deletion may date the appearance of this deletion back to approximately 16 generations ago. Evidences for founder effects of the other two deletions were also observed. This report documents the first identification of founder mutations in FLCN, as well as expands mutation spectrum of the gene. Our findings strengthen the view that MLPA analysis for intragenic deletions/duplications, as an important genetic testing complementary to DNA sequencing, should be used for clinical molecular diagnosis in FPSP. © 2015 Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.36979
Titel-ID: cdi_proquest_miscellaneous_1680462083
Format
–
Schlagworte
Adolescent
,
Adult
,
Aged
,
Aged, 80 and over
,
Asian Continental Ancestry Group
,
BHD syndrome
,
Chromosome Mapping
,
Chromosomes, Human, Pair 17 - genetics
,
deletion/duplication mutation
,
Exons
,
familiar primary spontaneous pneumothorax
,
Female
,
FLCN gene
,
Genetic Linkage
,
Humans
,
Male
,
Microsatellite Repeats - genetics
,
Middle Aged
,
Pneumothorax - diagnosis
,
Pneumothorax - genetics
,
Pneumothorax - physiopathology
,
Proto-Oncogene Proteins - genetics
,
Sequence Deletion
,
Tumor Suppressor Proteins - genetics
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