Diagnostic

Deafness Gene Mutation Detection Array Kit

CapitalBio Deafness Gene Mutation Detection Array Kit is designed for the rapid, high throughput screening of known hotspot mutations related to hereditary hearing loss. Nine mutations in four genes (GJB2, GJB3, SLC26A4 and 12S rRNA) are evaluated simultaneously.
Hereditary hearing loss may be inherited from one parent or both who may or may not have a loss of hearing themselves. The disease can be inherited in an autosomal dominant, an autosomal recessive, or an X-linked recessive manner, as well as mitochondrial inheritance. Approximately 0.1% of children are born with profound hearing loss and more than 50% of prelingual deafness is genetic, mostly often autosomal recessive and nonsyndromic. Many different genes are known to cause hereditary hearing loss and deafness. Knowledge of the mutations can help to identify hearing impairment at birth, so that educational programs that stimulate language can begin immediately. Furthermore, it can also provide warning to avoid taking certain types of antibiotics, which are known to cause deafness in children carrying certain gene mutations.

Key Features| Specifications| Applications| Certification| Ordering Information| References|

◆ Multiplex: 9 mutations of 4 genes can be detected simultaneously
◆ Wide spectrum of mutation screening: The 9 mutations are hotspot mutations that cover the majority (>80% in Chinese population) of hereditary hearing loss patients or mutation carriers
◆ Simple procedures: Specially designed PCR procedure and a standard hybridization process ensure that the test is simple and easy to control, in 5 hours from the sample to the report.
◆ High accuracy and efficiency: Multiple quality control design and automatic software for data processing are used to analyze the hybridization results, which ensures accuracy and efficiency. 100% consistent with sequencing results for over 1000 cases in double – blind clinical trial.

Information of the 9 mutations 

Gene
Mutation
Chromosome
GJB2
35delG, 176-191del16, 235delC, 299-300delAT
13q11-12
GJB3
538C>T
1p33-p35
12S rRNA
1555A>G,1494C>T
mtDNA
SLC26A4
2168A>G,IVS7-2A>G
7q22-31.1

Reference

1. Cai-xia Li, et al. Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening. Human mutation, 2008, 2:306-314.
2. Jia-hui Xia, et al. Mutations in the gene encoding gap junction protein ß-3 associated with autosomal dominant hearing impairment. Nature genetics, 1998, 20:370-373.
3. Hui Zhao, et al. Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large chinese family. American journal of human genetics, 2004, 74:139-152.
4. Pu Dai, et al. Features of nationwide distribution and frequency of a common gap junction beta-2 gene mutation in China. Chinese journal of otorhinolaryngology head and neck surgery, 2007, 42/11:804-808 (In Chinese)
5. Chen et al. Genetic Mutations in Non-syndromic Deafness Patients of Uyghur and Han Chinese Ethnicities in Xinjiang, China: A Comparative Study. Journal of Translational Medicine, 2011, 9:154.
6. C. Qu, et al., Microarray-based mutation detection of pediatric sporadic nonsyndromic hearing loss in China. Int. J. Pediatr. Otorhinolaryngol, 2011, doi:10.1016/j.ijporl.2011.11.009.

 

 

Features
Parameters
Packing Size
24 tests / kit
Storage
Part A in 2-8℃; Part B in -20℃
Shelf Life
6 months
Platform
CapitalBio LuxScan 10K microarray scanner with dedicate software
Sensitivity
Down to 100 ng/μl genomic DNA

◆ Mutation carrier screen. The kit (and its prototype) has been using by clinical researchers in major hospitals and top tier medical universities of China since 2003. Selected publications:
1. Pu Dai, et al. Features of nationwide distribution and frequency of a common gap junction beta-2 gene mutation in China. Chinese journal of otorhinolaryngology head and neck surgery, 2007, 42/11:804-808 (In Chinese)
2. Chen et al. Genetic Mutations in Non-syndromic Deafness Patients of Uyghur and Han Chinese Ethnicities in Xinjiang, China: A Comparative Study. Journal of Translational Medicine, 2011, 9:154.
3. C. Qu, et al., Microarray-based mutation detection of pediatric sporadic nonsyndromic hearing loss in China. Int. J. Pediatr. Otorhinolaryngol, 2011, doi:10.1016/j.ijporl.2011.11.009.
◆ Prenatal diagnosis
Case study:
Mr and Mrs Liu have normal hearing but their 4-year-old child suffers profound congenital hearing loss at birth. Neither of Mr and Mrs Liu has family history of hearing problem. When Mrs Liu had been pregnant for 17 weeks, for a second child, the Liu’s family accepted genetic assay with CapitalBio Deafness Gene Mutation Detection Array Kit and found that: Mr Liu is a heterozygous carrier of 35insG/W on GJB2 gene, Mrs Liu is a heterozygous carrier of 235delC/W on GJB 2 gene, and their first child is a mutant heterozygote with 235delC and 35insG. Following the instruction of the physican, amniocentesis sample from Mrs Liu was tested and the fetus proved to be a mutant with 235delC and 35insG, which implied that the fetus would have the same hearing problem with the first child after birth. Mrs Liu decided to cease conception for this time (We respect the local laws and ethics in different lands. Please consult local authorities for alternative measures in similar situations). After one year, when Mrs Liu has been pregnant for 20 weeks again, she performed amniocentesis analysis and fortunately the fetus proved to be free of all nine mutations thus had no extra risk of hereditary deafness compared to common population. The second child has normal hearing in Liu’s family now.
◆ Neonatal screen
Case study:
A boy shows normal hearing in OAE (Otoacoustic emission) screening after birth but proves to be a mutant on SLC26A4 gene with delayed risk of hearing loss in umbilical cord blood test. Both the parents have normal hearing without family history of impaired hearing. Additional tests on the parents revealed that they both have the same mutation on SLC26A4 with the boy. The physician gave detail instructions to the boy and his parents to intervene and control the development progress of hearing loss. It is also recommended that prenatal diagnosis is necessary when the parents want a second child to avoid hearing loss risk.

Registration Certificate for Medical Device No. 0903084, by Chinese State Food and Drug Administration, since September 27th 2009

耳聋医疗器械注册证书

Cat. No.
Product Name
Product Description
300065
CapitalBio Deafness Gene Mutation Detection Array Kit
24 tests

1. Cai-xia Li, et al. Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening. Human mutation, 2008, 2:306-314.
2. Jia-hui Xia, et al. Mutations in the gene encoding gap junction protein ?-3 associated with autosomal dominant hearing impairment. Nature genetics, 1998, 20:370-373.
3. Hui Zhao, et al. Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large chinese family. American journal of human genetics, 2004, 74:139-152.
4. Pu Dai, et al. Features of nationwide distribution and frequency of a common gap junction beta-2 gene mutation in China. Chinese journal of otorhinolaryngology head and neck surgery, 2007, 42/11:804-808 (In Chinese)
5. Chen et al. Genetic Mutations in Non-syndromic Deafness Patients of Uyghur and Han Chinese Ethnicities in Xinjiang, China: A Comparative Study. Journal of Translational Medicine, 2011, 9:154.
6. C. Qu, et al., Microarray-based mutation detection of pediatric sporadic nonsyndromic hearing loss in China. Int. J. Pediatr. Otorhinolaryngol, 2011, doi:10.1016/j.ijporl.2011.11.009.