Abstract
Mechanism underlying the beneficial effect of folic acid supplementation in reducing the risk of neural tube defect is still not well understood. Current evidences show the involvement of folic acid metabolic genes polymorphism as contributing factors that regulate this pathway. Therefore, the objective of this research was to determine the presence of C677T polymorphism for methylenetetrahydrofolate reductase (MTHFR) and dihydrofolate reductase (DHFR-19 bp deletion) genes between mother-children pairs of case and control. With the approval of UKMMC ethic committee, genomic DNA was extracted from one hundred and forty consented bloods. Polymerase chain reaction (PCR), PCRRFLP (Restriction Fragment Length Polymorphism) and sequencing were employed to verify each nucleotide change. Our result shows that mutant MTHFR and DHFR alleles are present in all Malaysian sub-ethnic groups, case and control. Even though mutant MTHFR are found to be slightly higher in the case groups, 75% of the affected child is a non carrier for this allele and 62.5% of the mothers with an affected child are genotypically normal. For DHFR, almost all (87.5-100%) investigated samples are a carrier or having a double DHFR deletion be it a case or control pairs. However, strong maternal inheritance shown by the deleted allele might be due to a cascade effect of lacks of folate consumption or maternal uniparental disomy. In conclusion, the use of MTHFR and DHFR as markers in determining the risk of having spina bifida baby is uninformative and plays a small indirect role as the genetic causes of spina bifida. Therefore, spina bifida remains etiologically unknown polygenic and quantitative developmental trait whereby the searches for positive genetic marker need to be continued.
| Original language | English |
|---|---|
| Title of host publication | AIP Conference Proceedings |
| Pages | 271-276 |
| Number of pages | 6 |
| Volume | 1571 |
| DOIs | |
| Publication status | Published - 2013 |
| Event | 2013 UKM Faculty of Science and Technology Post-Graduate Colloquium - Selangor Duration: 3 Jul 2013 → 4 Jul 2013 |
Other
| Other | 2013 UKM Faculty of Science and Technology Post-Graduate Colloquium |
|---|---|
| City | Selangor |
| Period | 3/7/13 → 4/7/13 |
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Keywords
- Folic acid and polymorphisms
- Neural tube defect
- Spina bifida
ASJC Scopus subject areas
- Physics and Astronomy(all)
Cite this
Screening of polymorphisms for MTHFR and DHFR genes in spina bifida children and their mothers. / Husna, M. Z.; Ismail, Endom; Ibrahim, Sharaf; Selvi Naicker, Amaramalar; Fakhrurazi, H.; Htwe, R. Ohnmar; Kanehaswari, Y.; Abd Rashid, Abdul Halim; Wong, Sau Wei; Subashini, K.; Syahira, O. Nur; Aishah, S.
AIP Conference Proceedings. Vol. 1571 2013. p. 271-276.Research output: Chapter in Book/Report/Conference proceeding › Conference contribution
}
TY - GEN
T1 - Screening of polymorphisms for MTHFR and DHFR genes in spina bifida children and their mothers
AU - Husna, M. Z.
AU - Ismail, Endom
AU - Ibrahim, Sharaf
AU - Selvi Naicker, Amaramalar
AU - Fakhrurazi, H.
AU - Htwe, R. Ohnmar
AU - Kanehaswari, Y.
AU - Abd Rashid, Abdul Halim
AU - Wong, Sau Wei
AU - Subashini, K.
AU - Syahira, O. Nur
AU - Aishah, S.
PY - 2013
Y1 - 2013
N2 - Mechanism underlying the beneficial effect of folic acid supplementation in reducing the risk of neural tube defect is still not well understood. Current evidences show the involvement of folic acid metabolic genes polymorphism as contributing factors that regulate this pathway. Therefore, the objective of this research was to determine the presence of C677T polymorphism for methylenetetrahydrofolate reductase (MTHFR) and dihydrofolate reductase (DHFR-19 bp deletion) genes between mother-children pairs of case and control. With the approval of UKMMC ethic committee, genomic DNA was extracted from one hundred and forty consented bloods. Polymerase chain reaction (PCR), PCRRFLP (Restriction Fragment Length Polymorphism) and sequencing were employed to verify each nucleotide change. Our result shows that mutant MTHFR and DHFR alleles are present in all Malaysian sub-ethnic groups, case and control. Even though mutant MTHFR are found to be slightly higher in the case groups, 75% of the affected child is a non carrier for this allele and 62.5% of the mothers with an affected child are genotypically normal. For DHFR, almost all (87.5-100%) investigated samples are a carrier or having a double DHFR deletion be it a case or control pairs. However, strong maternal inheritance shown by the deleted allele might be due to a cascade effect of lacks of folate consumption or maternal uniparental disomy. In conclusion, the use of MTHFR and DHFR as markers in determining the risk of having spina bifida baby is uninformative and plays a small indirect role as the genetic causes of spina bifida. Therefore, spina bifida remains etiologically unknown polygenic and quantitative developmental trait whereby the searches for positive genetic marker need to be continued.
AB - Mechanism underlying the beneficial effect of folic acid supplementation in reducing the risk of neural tube defect is still not well understood. Current evidences show the involvement of folic acid metabolic genes polymorphism as contributing factors that regulate this pathway. Therefore, the objective of this research was to determine the presence of C677T polymorphism for methylenetetrahydrofolate reductase (MTHFR) and dihydrofolate reductase (DHFR-19 bp deletion) genes between mother-children pairs of case and control. With the approval of UKMMC ethic committee, genomic DNA was extracted from one hundred and forty consented bloods. Polymerase chain reaction (PCR), PCRRFLP (Restriction Fragment Length Polymorphism) and sequencing were employed to verify each nucleotide change. Our result shows that mutant MTHFR and DHFR alleles are present in all Malaysian sub-ethnic groups, case and control. Even though mutant MTHFR are found to be slightly higher in the case groups, 75% of the affected child is a non carrier for this allele and 62.5% of the mothers with an affected child are genotypically normal. For DHFR, almost all (87.5-100%) investigated samples are a carrier or having a double DHFR deletion be it a case or control pairs. However, strong maternal inheritance shown by the deleted allele might be due to a cascade effect of lacks of folate consumption or maternal uniparental disomy. In conclusion, the use of MTHFR and DHFR as markers in determining the risk of having spina bifida baby is uninformative and plays a small indirect role as the genetic causes of spina bifida. Therefore, spina bifida remains etiologically unknown polygenic and quantitative developmental trait whereby the searches for positive genetic marker need to be continued.
KW - Folic acid and polymorphisms
KW - Neural tube defect
KW - Spina bifida
UR - http://www.scopus.com/inward/record.url?scp=84897749413&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84897749413&partnerID=8YFLogxK
U2 - 10.1063/1.4858667
DO - 10.1063/1.4858667
M3 - Conference contribution
AN - SCOPUS:84897749413
SN - 9780735411999
VL - 1571
SP - 271
EP - 276
BT - AIP Conference Proceedings
ER -