Screening of Graves' disease susceptibility genes by whole exome sequencing in a three-generation family.

ABSTRACT:

Background

Graves' disease(GD) has a tendency for familial aggregation, but it is uncommon to occur in more than two generations. However, little is known about susceptibility genes for GD in the three-generation family.

Methods

DNA were extracted from three-generation familial GD patient with a strong genetic background in a Chinese Han population. The Whole Exome Sequencing (WES) was utilized to screen the genome for SNVs associated with GD and the Sanger Sequencing was used to confirm the potential disease-causing genes.

Results

In the case study, there were five patients with Graves' disease(GD) from a three-generation family. The SNVs of MAP7D2(c. 452C > T: p. A151V), SLC1A7(c. 1204C > T: p. R402C), TRAF3IP3(c. 209A > T: p. N70I), PTPRB(c. 3472A > G: p. S1158G),

SUBMITTER: Hu Z 

PROVIDER: S-EPMC7874465 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature