Mutational Analysis of EXT1in a Chinese Family Affected by Hereditary Multiple Osteochondroma.

ABSTRACT:

Objectives

To discuss the mutational features and their relationships with disease in a family with hereditary multiple osteochondroma (HMO) from Guangxi Province (GXBB-1 family), China.

Methods

Genomic DNA and total mRNA were extracted from peripheral blood cells of GXBB-1 family members. Whole elements of the EXT1gene and its transcript, including exons, introns, exon-intron boundaries, and coding sequence (CDS) clones, were amplified and sequenced. Allele-specific PCR was used to confirm the position and type of mutation.

Results

All patients from the GXBB-1 family harbored the cosegregating heterozygous c.1056+1G>A mutation located in EXT1at an exon-intron boundary. Another three single-nucleotide polymorphisms (SNPs) were also detected in the patien

SUBMITTER: Yuan G 

PROVIDER: S-EPMC8367584 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature