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 Nov 22;12:769699. doi: 10.3389/fgene.2021.769699

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

Copyright © 2021 Deng, Xu, Chen, Guo, Steiner, Chen, Cheng, Xu, Yao, Li, Wang, Deng, Schrodi, Zhang and Xin.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

PMC Copyright notice

Clinical Phenotypes and Identification of Two Novel Mutations of ABCG5 Gene of the proband in a pedigree family. Panel (A) shows the large platelet in the blood smear (left) and the atherosclerotic plaque by B-mode ultrasound measurement from the proband. Panel (B), a pedigree chart shows the phenotype distribution in all family members and the transmission of two novel variants (Var 1 and Var 2) of ABCG5 in the family. Panel (C) shows the size distribution of platelets (PLT) in the proband and her parents. The dash lines represent the platelets’ volume, and the double dash lines indicate 30 fl, in which 40 fl is the up limitation for the normal distribution of PLT. Panel (D) shows the ABCG5 gene model from the NCBI database and the inserted fragments in the constructs for wild type and Var2 mutant in the splicing pattern assay. The arrows indicate the primer pairs used for the detection of the mRNA products which were transcribed from the constructs. Panel (E) shows the PCR amplification results of two products generated from wild-type and Var2 mutant constructs, respectively. The product from the wild-type construct is 295 bp, and the product for the mutant is 81 bp due to deleting exon 8 of the ABCG5 gene. The truncated transcripts were further verified by Sanger sequencing.