Analysis of genetic characteristics of four families with Huntington’s disease

Abstract

Objective To investigate the features of molecular genetics of 4 Huntington's disease (HD) pedigrees in Xinjiang. Methods Collected for this study were the data of the HD patients who had been admitted by Department of Neurology, The First Affiliated Hospital to Xinjiang Medical University from August 2010 to June 2017 and the genetic data of their 4 HD pedigrees of altogether 15 members. Their mutations of HTT gene amplification of CAG trinucleotide were detected with the polymerase chain reaction and capillary electrophoresis. Their test results and genetic characteristics were analyzed respectively. Results The 4 pedigrees of HD included 3 Han families and one Hui family. The 4 HD patients confirmed were one male and 3 females; their onset age ranged from 21 to 47 years old; their CAG copy number ranged from 42 to 62 times. The 3 presymptomatic patients were 2 males and one female, aged from 27 to 31 years old; their CAG copy number ranged from 44 to 48 times. The CAG copy number ranged from 16 to 20 times in the normal family members of the 4 HD pedigrees. Conclusions The CAG copy number may be increased and anticipation may exist in the HD patients by paternal inheritance. Key words: Huntington's disease; Trinucleotide repeat; Molecular genetics