How old is this mutation? - a study of three Ashkenazi Jewish founder mutations

被引:0
作者
Celia MT Greenwood
Shuying Sun
Justin Veenstra
Nancy Hamel
Bethany Niell
Stephen Gruber
William D Foulkes
机构
[1] Hospital for Sick Children Research Institute,Genetics and Genome Biology
[2] University of Toronto,Dalla Lana School of Public Health
[3] Case Comprehensive Cancer Center,General Medical Sciences (Oncology)
[4] University of Western Ontario,Department of Statistics and Actuarial Science
[5] Research Institute of the McGill University Health Centre,Department of Medical Genetics
[6] Massachusetts General Hospital,Diagnostic Radiology
[7] University of Michigan School of Public Health,Cancer Genetics, Departments of Oncology and Human Genetics, Gerald Bronfman Centre for Clinical Research in Oncology
[8] McGill University,Lady Davis Institute for Medical Research
[9] Jewish General Hospital,undefined
来源
BMC Genetics | / 11卷
关键词
Credible Interval; Founder Mutation; Recent Common Ancestor; Gene Genealogy; Coalescent Time;
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[21]   Recurrent and founder mutations in the NetherlandsPlakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia [J].
P.A. van der Zwaag ;
M.G.P.J. Cox ;
C. van der Werf ;
A.C.P. Wiesfeld ;
J.D.H. Jongbloed ;
D. Dooijes ;
H. Bikker ;
R. Jongbloed ;
A.J.H. Suurmeijer ;
M.P. van den Berg ;
R.M.W. Hofstra ;
R.N.W. Hauer ;
A.A.M. Wilde ;
J.P. van Tintelen .
Netherlands Heart Journal, 2010, 18 :583-591
[22]   The BRCA1 Ashkenazi founder mutations occur on common haplotypes and are not highly correlated with anonymous single nucleotide polymorphisms likely to be used in genome-wide case-control association studies [J].
Lutécia H Mateus Pereira ;
Marbin A Pineda ;
William H Rowe ;
Libia R Fonseca ;
Mark H Greene ;
Kenneth Offit ;
Nathan A Ellis ;
Jinghui Zhang ;
Andrew Collins ;
Jeffery P Struewing .
BMC Genetics, 8
[23]   Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations [J].
Bruno Moulard ;
Pierre Genton ;
Djamel Grid ;
Marc Jeanpierre ;
Réda Ouazzani ;
Amel Mrabet ;
Mike Morris ;
Eric LeGuern ;
Charlotte Dravet ;
François Mauguière ;
Barbara Utermann ;
Michel Baldy-Moulinier ;
Halima Belaidi ;
Françoise Bertran ;
Arnaud Biraben ;
André Ali Chérif ;
Taieb Chkili ;
Arielle Crespel ;
Françoise Darcel ;
Olivier Dulac ;
Christian Geny ;
Véronique Humbert-Claude ;
Philippe Kassiotis ;
Catherine Buresi ;
Alain Malafosse .
Human Genetics, 2002, 111 :255-262
[24]   Recurrent and founder mutations in the Netherlands Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia [J].
van der Zwaag, P. A. ;
Cox, M. G. P. J. ;
van der Werf, C. ;
Wiesfeld, A. C. P. ;
Jongbloed, J. D. H. ;
Dooijes, D. ;
Bikker, H. ;
Jongbloed, R. ;
Suurmeijer, A. J. H. ;
van den Berg, M. P. ;
Hofstra, R. M. W. ;
Hauer, R. N. W. ;
Wilde, A. A. M. ;
van Tintelen, J. P. .
NETHERLANDS HEART JOURNAL, 2010, 18 (12) :583-591
[25]   TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy [J].
Zhang, Shujie ;
Qin, Haisong ;
Wang, Qingming ;
Wang, Yingfei ;
Liu, Yanhui ;
Yang, Qi ;
Luo, Jingsi ;
Qin, Zailong ;
Ji, Xiang ;
Kan, Lijuan ;
Geng, Guoxing ;
Huang, Jing ;
Wei, Shengkai ;
Chen, Qiuli ;
Shen, Yiping ;
Yuan, Haiming ;
Lai, Baoling .
ORPHANET JOURNAL OF RARE DISEASES, 2024, 19 (01)
[26]   Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene [J].
Tang, R. ;
Hsiung, C. ;
Wang, J-Y ;
Lai, C-H ;
Chien, H-T ;
Chiu, L-L ;
Liu, C-T ;
Chen, H-H ;
Wang, H-M ;
Chen, S-X ;
Hsieh, L-L .
CLINICAL GENETICS, 2009, 75 (04) :334-345
[27]   WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study [J].
Yuan, J. -H. ;
Hashiguchi, A. ;
Yoshimura, A. ;
Sakai, N. ;
Takahashi, M. P. ;
Ueda, T. ;
Taniguchi, A. ;
Okamoto, S. ;
Kanazawa, N. ;
Yamamoto, Y. ;
Saigoh, K. ;
Kusunoki, S. ;
Ando, M. ;
Hiramatsu, Y. ;
Okamoto, Y. ;
Takashima, H. .
CLINICAL GENETICS, 2017, 92 (06) :659-663
[28]   RNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutieres syndrome 3 [J].
Wang, Qingming ;
Han, Ye ;
Zhou, Xinlong ;
Cheng, ShuangXi ;
Wang, Xin ;
Chen, Xiaoli ;
Yuan, Haiming .
CLINICAL GENETICS, 2023, 104 (02) :259-265
[29]   TP53 mutation p.R337H in gastric cancer tissues of a 12-year-old male child - evidence for chimerism involving a common mutant founder haplotype: case report [J].
Edaise M da Silva ;
Maria Isabel W Achatz ;
Ghyslaine Martel-Planche ;
André L Montagnini ;
Magali Olivier ;
Patricia A Prolla ;
Pierre Hainaut ;
Fernando A Soares .
BMC Cancer, 11
[30]   A case–control study of BRCA1 founder mutations 185delAG and 5382insC in a cohort of Egyptian ovarian cancer patients using pyrosequencing technique [J].
Mohamed M. Rizk ;
Nour M. El-etreby ;
Lama M. El-Attar ;
Eman A. Elzyat ;
Marwa H. Saied .
Egyptian Journal of Medical Human Genetics, 23