Gene sequencing for hereditary deafness

Hereditary hearing loss is due to deafness gene and chromosome abnormality, the disease is by parents genetic material, including chromosome and is located in one of the genes changed and passed to offspring caused by, is the human most common sensory nervous system defects. Regardless of the parents of the unilateral or both the two sides are deaf patients or healthy carriers, deafness genes will be inherited through the parents to their children. The disease is inherited in the next generation through the autosomal recessive and mitochondrial inheritance. The identification of genetic mutations can prevent the birth defects of congenital deafness, control the risk of deafness, prevent or delay the occurrence and development of deafness.


2005 Spring Festival Gala, a 21 deaf performers by offering "Avalokitesvara" let too many people feel shocked and moved, the 21 performers, 18 is due to small when the injection of antibiotics caused deafness.


According to statistics, drug-induced deafness and congenital deafness accounted for more than 90% of deaf disability.


Product introduction

序号基因名称位点遗传方式和疾病相关性
1GJB2
35deIGARGJB2基因突变与先天性聋哑有关
2155deITCTG
3167deIC
4235deIC
5

299-300deIAT

6512insAACG
7176deI16bp
8GJB3538C>T

AD/AR

GJB3基因突变的部分携带者与迟发性耳聋关系
9547G>A
10SLC26A4281C>TAR大前庭水管常染色体隐性遗传病
11589G>A
12IVS7-2A>G
131174A>T
141226G>A
151229C>T
16IVSⅠ5+5G>A
171975G>C
182027T>A
192162C>T
202168A>G
21

MTRNR1

(12S RNA)

1494C>T

Mitochondrial

Inheritance

氨基糖类药物导致的药物性耳聋的突变热点区
221555A>G


Sample type

1 whole blood 5ml (EDTA anticoagulant tube).

2 neonatal umbilical cord blood or blood collection from heel piece.


intended for

1, the husband and wife one side is deaf patient, or the family has the congenital deafness patient.

2, has been the birth of a deaf children, the couple plans to once again.

3, deaf youth are facing marriage, want to avoid the risk of the birth of deaf children.

4, deaf patients want to know their cause of deafness.

5. Normal couples want to assess the risk of hearing loss in newborns.