Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss
To identify the mutations in the GJB2 gene and to determine its association with non-syndromic hearing loss in Malays. A comparative cross sectional study was conducted on a group of children from the deaf schools and the normal schools. A total of 91 buccal cell samples of non-syndromic hearing los...
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| Published in | International journal of pediatric otorhinolaryngology Vol. 76; no. 8; pp. 1175 - 1179 |
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| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Ireland
Elsevier Ireland Ltd
01.08.2012
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| ISSN | 0165-5876 1872-8464 1872-8464 |
| DOI | 10.1016/j.ijporl.2012.04.027 |
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| Abstract | To identify the mutations in the GJB2 gene and to determine its association with non-syndromic hearing loss in Malays.
A comparative cross sectional study was conducted on a group of children from the deaf schools and the normal schools. A total of 91 buccal cell samples of non-syndromic hearing loss and 91 normal hearing children were taken. Polymerase chain reaction was used to amplify the coding region of GJB2 gene. The PCR product of GJB2 coding region was preceded with screening for mutations using denaturing high performance liquid chromatography (dHPLC) and mutations detected were confirmed by DNA sequencing.
Twelve sequence variations including mutations and polymorphisms were found in 32 patients and 37 control subjects. The variations were G4D, V27I, E114G, T123N, V37I and R127H in both groups, W24X, R32H, 257_259 del CGC and M34L in patients only and I203T and V153I in control subjects only. There were no association between homozygous (P=0.368) or heterozygous (P=0.164) GJB2 gene and non-syndromic hearing loss.
The types of GJB2 gene mutation were different and vary in Malay non-syndromic hearing loss as compared to the other races. Furthermore, the mutation did not associate with hearing loss in the population. Other related genes are believed to be involved and need to be sought in this group of patients. |
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| AbstractList | To identify the mutations in the GJB2 gene and to determine its association with non-syndromic hearing loss in Malays.
A comparative cross sectional study was conducted on a group of children from the deaf schools and the normal schools. A total of 91 buccal cell samples of non-syndromic hearing loss and 91 normal hearing children were taken. Polymerase chain reaction was used to amplify the coding region of GJB2 gene. The PCR product of GJB2 coding region was preceded with screening for mutations using denaturing high performance liquid chromatography (dHPLC) and mutations detected were confirmed by DNA sequencing.
Twelve sequence variations including mutations and polymorphisms were found in 32 patients and 37 control subjects. The variations were G4D, V27I, E114G, T123N, V37I and R127H in both groups, W24X, R32H, 257_259 del CGC and M34L in patients only and I203T and V153I in control subjects only. There were no association between homozygous (P=0.368) or heterozygous (P=0.164) GJB2 gene and non-syndromic hearing loss.
The types of GJB2 gene mutation were different and vary in Malay non-syndromic hearing loss as compared to the other races. Furthermore, the mutation did not associate with hearing loss in the population. Other related genes are believed to be involved and need to be sought in this group of patients. Abstract Objectives To identify the mutations in the GJB2 gene and to determine its association with non-syndromic hearing loss in Malays. Methods A comparative cross sectional study was conducted on a group of children from the deaf schools and the normal schools. A total of 91 buccal cell samples of non-syndromic hearing loss and 91 normal hearing children were taken. Polymerase chain reaction was used to amplify the coding region of GJB2 gene. The PCR product of GJB2 coding region was preceded with screening for mutations using denaturing high performance liquid chromatography (dHPLC) and mutations detected were confirmed by DNA sequencing. Results Twelve sequence variations including mutations and polymorphisms were found in 32 patients and 37 control subjects. The variations were G4D, V27I, E114G, T123N, V37I and R127H in both groups, W24X, R32H, 257_259 del CGC and M34L in patients only and I203T and V153I in control subjects only. There were no association between homozygous ( P = 0.368) or heterozygous ( P = 0.164) GJB2 gene and non-syndromic hearing loss. Conclusions The types of GJB2 gene mutation were different and vary in Malay non-syndromic hearing loss as compared to the other races. Furthermore, the mutation did not associate with hearing loss in the population. Other related genes are believed to be involved and need to be sought in this group of patients. To identify the mutations in the GJB2 gene and to determine its association with non-syndromic hearing loss in Malays.OBJECTIVESTo identify the mutations in the GJB2 gene and to determine its association with non-syndromic hearing loss in Malays.A comparative cross sectional study was conducted on a group of children from the deaf schools and the normal schools. A total of 91 buccal cell samples of non-syndromic hearing loss and 91 normal hearing children were taken. Polymerase chain reaction was used to amplify the coding region of GJB2 gene. The PCR product of GJB2 coding region was preceded with screening for mutations using denaturing high performance liquid chromatography (dHPLC) and mutations detected were confirmed by DNA sequencing.METHODSA comparative cross sectional study was conducted on a group of children from the deaf schools and the normal schools. A total of 91 buccal cell samples of non-syndromic hearing loss and 91 normal hearing children were taken. Polymerase chain reaction was used to amplify the coding region of GJB2 gene. The PCR product of GJB2 coding region was preceded with screening for mutations using denaturing high performance liquid chromatography (dHPLC) and mutations detected were confirmed by DNA sequencing.Twelve sequence variations including mutations and polymorphisms were found in 32 patients and 37 control subjects. The variations were G4D, V27I, E114G, T123N, V37I and R127H in both groups, W24X, R32H, 257_259 del CGC and M34L in patients only and I203T and V153I in control subjects only. There were no association between homozygous (P=0.368) or heterozygous (P=0.164) GJB2 gene and non-syndromic hearing loss.RESULTSTwelve sequence variations including mutations and polymorphisms were found in 32 patients and 37 control subjects. The variations were G4D, V27I, E114G, T123N, V37I and R127H in both groups, W24X, R32H, 257_259 del CGC and M34L in patients only and I203T and V153I in control subjects only. There were no association between homozygous (P=0.368) or heterozygous (P=0.164) GJB2 gene and non-syndromic hearing loss.The types of GJB2 gene mutation were different and vary in Malay non-syndromic hearing loss as compared to the other races. Furthermore, the mutation did not associate with hearing loss in the population. Other related genes are believed to be involved and need to be sought in this group of patients.CONCLUSIONSThe types of GJB2 gene mutation were different and vary in Malay non-syndromic hearing loss as compared to the other races. Furthermore, the mutation did not associate with hearing loss in the population. Other related genes are believed to be involved and need to be sought in this group of patients. |
| Author | Zainuddin, Zafarina Zainal, Siti Aishah Md Daud, Mohd Khairi Abd Rahman, Normastura Alwi, Zilfalil |
| Author_xml | – sequence: 1 givenname: Siti Aishah surname: Zainal fullname: Zainal, Siti Aishah organization: Human Genome Center, School of Medical Sciences, Health Campus, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia – sequence: 2 givenname: Mohd Khairi surname: Md Daud fullname: Md Daud, Mohd Khairi email: khairi@kck.usm.my organization: Department of Otorhinolaryngology-Head & Neck Surgery, School of Medical Sciences, Health Campus, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia – sequence: 3 givenname: Normastura surname: Abd Rahman fullname: Abd Rahman, Normastura organization: School of Dental Sciences, Health Campus, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia – sequence: 4 givenname: Zafarina surname: Zainuddin fullname: Zainuddin, Zafarina organization: School of Health Sciences, Health Campus, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia – sequence: 5 givenname: Zilfalil surname: Alwi fullname: Alwi, Zilfalil organization: Human Genome Center, School of Medical Sciences, Health Campus, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia |
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| CitedBy_id | crossref_primary_10_1177_0003489415575060 crossref_primary_10_1002_lary_24332 crossref_primary_10_1371_journal_pone_0135088 crossref_primary_10_1371_journal_pone_0156300 crossref_primary_10_1016_j_ijporl_2014_07_014 crossref_primary_10_1016_j_ijporl_2014_09_016 crossref_primary_10_1021_acs_analchem_9b00652 crossref_primary_10_18632_oncotarget_17325 crossref_primary_10_1371_journal_pone_0070916 |
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| Keywords | GJB2 gene Sensorineural Malay Hearing loss |
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| Snippet | To identify the mutations in the GJB2 gene and to determine its association with non-syndromic hearing loss in Malays.
A comparative cross sectional study was... Abstract Objectives To identify the mutations in the GJB2 gene and to determine its association with non-syndromic hearing loss in Malays. Methods A... To identify the mutations in the GJB2 gene and to determine its association with non-syndromic hearing loss in Malays.OBJECTIVESTo identify the mutations in... |
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| SubjectTerms | Connexin 26 Connexins - genetics Cross-Sectional Studies DNA Mutational Analysis Genotype GJB2 gene Hearing loss Hearing Loss - epidemiology Hearing Loss - genetics Humans Malay Malaysia - epidemiology Mutation Otolaryngology Pediatrics Polymerase Chain Reaction Polymorphism, Genetic Prevalence Sensorineural |
| Title | Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss |
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