Original paper

Y chromosomal deletion pattern in Koreans inhabiting Jeju Island

Lee, Ji Hyun; Jin, Hong Xuan; Cho, Sohee; Kim, Han Na; Seo, Hee Jin; Shin, Kyoung-Jin; Shin, Dong Hoon; Lee, Soong Deok

Anthropologischer Anzeiger Volume 74 No. 3 (2017), p. 177 - 182

published: Sep 1, 2017
published online: May 30, 2017
manuscript accepted: Mar 7, 2017
manuscript revision received: Feb 28, 2017
manuscript revision requested: Nov 17, 2016
manuscript received: Jun 1, 2016

DOI: 10.1127/anthranz/2017/0669

BibTeX file

ArtNo. ESP140007403000, Price: 29.00 €

Download preview PDF Buy as PDF


Abstract Mutations occur in Y chromosome genes similar to autosomal genes. However, unlike autosomal genes, Y chromosome genes do not undergo recombination, which produce distinctive characteristics and distribution patterns in different geographic regions. Therefore, detailed analysis of mutations of Y chromosome genes might provide information for personal identification or analysis of phylogenetic history. In Y-STR (short tandem repeat) analysis tests on 668 habitants of Jeju Island, the largest island in the Korean peninsula located apart from the mainland, a deletion at DYS448 was found in 10 samples. The length of deletion was estimated by confirming specific Sequence Tagged Site (STS) markers ranging from G66018 to sY1201. Patterns found were similar to those of the Kalmyks, a tribe that has had strong social and genetic influences in Jeju Island in the past. Historically from 1273 on, Jeju Island was governed by Mongolian for about one hundred years. The results of this study suggest such historical aspects affected the genetic composition of people living in Jeju Island. Furthermore, previous reports showed that Y chromosomal deletions and region specific Y chromosomal mutations depended on regional differences. This study may be useful for a better understanding of the genetic structure of Jeju habitants as well as Korean population for the purpose of forensic practice and population genetics.


short tandem repeatY-STRdeletionJeju islandKorean