Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2021 Oct 1;141(3-4):665–681. doi: 10.1007/s00439-021-02371-3

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© The Author(s) 2021

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

PMC Copyright notice

Fig. 4 — A The spectrum of GJB2 mutations. A larger circle indicates a larger number of mutated alleles (from Tsukada et al. 2015b). B Suspected origin of the GJB2 variants (modified from Tsukada et al. 2015b). Suspected origin of GJB2 variants are marked on the human Y-chromosomal haplogroup tree (Karafet et al. 2008), which is applicable to the investigation of human migration. Lineages associated with haplogroup IJ in the Y-haplotype tree based on Karafet et al. (2008). From geographical distribution and haplotype analysis, it is speculated that p. Arg143Trp may have occurred in the Y-chromosomal haplogroup B, p.Val37Ile in D and E, and c.235delC, p.[G45E; Y136X], and c.176_191del, c.299_300delAT in N and O, respectively. C GJB2 founder variants from a human migration perspective based on Y chromosome haplotypes: c.235 del C is considered to have occurred in haplotype N/O from the viewpoint of its geographic distribution. On the other hand, p.Val37Ile is consistent with the area where the haplotype C/D/E was found, so it is probable that it occurred within this haplotype