Genetic testing and prenatal diagnosis of two pedigrees affected with Huntington disease.
10.3760/cma.j.cn511374-20200323-00192
- Author:
Yilin REN
1
;
Peng DAI
;
Chen CHEN
;
Huikun DUAN
;
Xiangdong KONG
Author Information
1. Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Child;
Female;
Genetic Testing;
Humans;
Huntington Disease/genetics*;
Nerve Tissue Proteins/genetics*;
Pedigree;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2021;38(5):446-449
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for two Chinese pedigrees affected with Huntington disease and provide prenatal diagnosis for them.
METHODS:Peripheral venous blood samples were collected from the probands. PCR and capillary gel electrophoresis were used to determine the number of CAG repeats in their IT15 gene. Pre-symptomatic testing was offered to their children and relatives, and prenatal diagnosis was provided to three pregnant women from the two pedigrees.
RESULTS:The two probands, in addition with three asymptomatic members, were found to have a (CAG)n repeat number greater than 40. Upon prenatal diagnosis, the numbers of CAG repeats in two fetuses from pedigree 1 were determined as (16, 19) and (18, 19), both were within the normal range. A fetus from pedigree 2 was found to have a CAG repeat number of (15, 41), which exceeded the normal range.
CONCLUSION:Genetic testing can facilitate the diagnosis of Huntington disease and avoid further birth of affected children.
