Founder Haplotype Analysis of Fanconi Anemia in the Korean Population Finds Common Ancestral Haplotypes for aFANCGVariant

2015 ◽  
Vol 79 (3) ◽  
pp. 153-161
Author(s):  
Joonhong Park ◽  
Myungshin Kim ◽  
Woori Jang ◽  
Hyojin Chae ◽  
Yonggoo Kim ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Haplotype Analysis ◽  
Korean Population ◽  
Founder Haplotype ◽  
Ancestral Haplotypes

Development of a Y-STR 12-plex PCR system and haplotype analysis in a Korean population

2009 ◽  
Vol 88 (3) ◽  
pp. 353-358 ◽  
Author(s):  
Sun Wha Park ◽  
Choon Hong Hwang ◽  
Eun Min Cho ◽  
Ji Hwan Park ◽  
Byung Ok Choi ◽  
...  
Keyword(s):  
Haplotype Analysis ◽  
Korean Population

Distribution of the F374 Allele of the SLC45A2 (MATP) Gene and Founder-Haplotype Analysis

2006 ◽  
Vol 70 (6) ◽  
pp. 802-811 ◽  
Author(s):  
I. Yuasa ◽  
K. Umetsu ◽  
S. Harihara ◽  
A. Kido ◽  
A. Miyoshi ◽  
...  
Keyword(s):  
Haplotype Analysis ◽  
Founder Haplotype

Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD)

1998 ◽  
Vol 103 (3) ◽  
pp. 323-327 ◽  
Author(s):  
Kazuhiro Kobayashi ◽  
Yutaka Nakahori ◽  
Kunihiko Mizuno ◽  
Masashi Miyake ◽  
Toshiyuki Kumagai ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Haplotype Analysis ◽  
Congenital Muscular Dystrophy ◽  
Founder Haplotype

scholarly journals Discovery of BRCA1/BRCA2 Founder Variants by Haplotype Analysis

2021 ◽  
Author(s):  
Won Kyung Kwon ◽  
Hyeok-Jae Jang ◽  
Jeong Eon Lee ◽  
Yeon Hee Park ◽  
Jai Min Ryu ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Single Nucleotide Polymorphisms ◽  
Haplotype Analysis ◽  
Medical Center ◽  
Korean Population ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Pathogenic Variants ◽  
Ovarian Cancers ◽  
Brca1 Brca2

Abstract A significant number of hereditary breast or ovarian cancers are caused by germline variants, mostly BRCA1/BRCA2 genes. Because genetic predispositions vary by ethnicity, several studies have reported founder variants of BRCA1/BRCA2 genes. Such founder variants were reported primarily based on their relevant population frequencies. We reviewed the variant data relating to BRCA1 and BRCA2 genes from January, 2012 to March 2019 at Samsung Medical Center, Seoul, Korea. Among the cases with pathogenic variants (PVs) or likely pathogenic variants (LPVs), we defined recurrent variants as those found in more than five unrelated patients. Using single nucleotide polymorphisms, we analyzed patient haplotypes. There were 14 recurrent variants in the BRCA1 gene and seven variants in the BRCA2 gene. Of note, three variants in each gene were primarily detected in Korean populations. Among them, the c.5339T > C BRCA1 variant had a long block sized 74.5 kb. In BRCA2, the c.1399A > T variant had a long block sized 35.5 kb. We suggest that BRCA1 c.5339T > C and BRCA2 c.1399A > T are founder variants of the Korean population. These two recurrent variants were ethnicity-prevalent, primarily found in Korean populations, and the sizes of the linkage disequilibrium blocks are longer than others.

FANCAandFANCGare the major Fanconi anemia genes in the Korean population

2013 ◽  
Vol 84 (3) ◽  
pp. 271-275 ◽  
Author(s):  
J Park ◽  
N-G Chung ◽  
H Chae ◽  
M Kim ◽  
S Lee ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Korean Population

scholarly journals Genetic Polymorph isms and Haplotype Analysis of Sweet Taste Receptor TAS1R2 Gene in the Korean Population

2010 ◽  
Vol 20 (3) ◽  
pp. 462-465
Author(s):  
Hye-Jin Lee ◽  
Jae-Woong Bae ◽  
Tae-Jun Kwon ◽  
Bo-Rum SaGong ◽  
Un-Kyung Kim
Keyword(s):  
Haplotype Analysis ◽  
Taste Receptor ◽  
Sweet Taste ◽  
Korean Population ◽  
Sweet Taste Receptor

scholarly journals SNP identification, linkage disequilibrium, and haplotype analysis for a 200-kb genomic region in a Korean population

Genomics ◽  
2006 ◽  
Vol 88 (5) ◽  
pp. 535-540 ◽  
Author(s):  
Kwang Joong Kim ◽  
Hye-Ja Lee ◽  
Mi-Hyun Park ◽  
Seung-Hun Cha ◽  
Kyung-Seon Kim ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Haplotype Analysis ◽  
Genomic Region ◽  
Korean Population

Abstract #838: A case of Primary Empty Sella in Fanconi Anemia: An Enigma of Findings & Dilemma in Management

2015 ◽  
Vol 21 ◽  
pp. 166-167
Author(s):  
Anirban Sinha ◽  
Ravindra Shukla ◽  
Biplab Mandal ◽  
Asish Basu ◽  
Satyam Chakraborty ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Empty Sella ◽  
Primary Empty Sella
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