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Human alpha-L-iduronidase (IDUA) gene: correlation of polymorphic DNA haplotype and IDUA activity in Chinese population

Lee-Chen, G.J.; Wang, C.K.; Huang, S.F.; Day, K.R.

Proceedings of the National Science Council Republic of China. Part B Life Sciences 22(1): 31-38

1998

ISSN/ISBN: 0255-6596
PMID: 9536518
Document Number: 1020
The correlation of polymorphic DNA haplotype of the α-L-iduronidase (IDUA) gene and IDUA activity in Chinese subjects was investigated. Genomic DNA extracted from 85 randomly sampled normal individuals was used to amplify fragments containing the polymorphic change site A8, Q33H (exon 1), R105Q (exon 3), A361T (exon 8), or V454I (exon 9). The PCR amplified products were analyzed by means of restriction fragment length polymorphism (RFLP) or allele specific oligonucleotide (ASO) hybridization. Leukocytes were isolated from the above 85 samples, and their IDUA activities were determined. A wide range of IDUA activity (50-300 nmol/h/mg cell protein) with an average of 156 nmol/h/mg cell protein was observed. When the allele frequency was compared between individuals with IDUA activity below 90% or above 110% of the average, a bias toward the common allele "1" of Q33H (G1n33) was detected in individuals with higher IDUA activity. Conversely, the polymorphic allele "2" of R105Q (Glitios), A361T (Thr361), and V454I (I1e454) was found in the higher IDUA activity group. Linkage disequilibrium analysis of the haplotype data revealed strong nonrandom association among the polymorphic alleles of R105Q, A361T, and V454I. Of the haplotypes constructed by Q33H, R105Q, A361T, and V454I, a positive correlation between haplotype 1,2,2,2 (G1n33, Glnio5, Thr361, I1e454) and IDUA activity was observed. The IDUA activity was found to increase with Glni05, Thr361, or I1e454 polymorphic changes by mutagenesis and expression of IDUA cDNA in COS-7 cells. By combining the positive effect of Glni05, Thr361, and IIe454 in one cDNA construct, it may be possible to produce a high activity IDUA protein for MPS I enzyme replacement therapy.

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Human alpha-L-iduronidase (IDUA) gene: correlation of polymorphic DNA haplotype and IDUA activity in Chinese population

Xu, L.; Qiao, Y.; Zhang, X.; Sun, H.; Wang, J.; Sun, D.; Jia, X.; Shen, C.; Zhao, Y.; Jin, Y.; Yu, Y.; Ling, H.; Wang, K.; Fu, S. 2011: A haplotype in the CCR5 gene promoter was associated with the susceptibility to HIV-1 infection in a northern Chinese population Molecular Biology Reports 38(1): 327-332
Tsvetkova, I.V.; Karpova, E.A.; Voznyĭ, I.V.; Zolotukhina, T.V.; Biriukov, V.B.; Semiachkina, A.N. 1991: Use of 4-methylumbelliferryl-alpha-L-iduronide and 4-trifluoromethylumbelliferryl-alpha-L-iduronide for detecting alpha-L-iduronidase deficiencies in human tissue and for rapid prenatal diagnosis of Hurler disease Voprosy Meditsinskoi Khimii 37(1): 74-77
Bardy, P.G.; Lopez, A.F.; Moore, S.; Park, L.S.; Vadas, M.A.; Shannon, M.F. 1992: Human GM-CSF receptor alpha-chain gene is highly polymorphic but not rearranged in AML Leukemia 6(9): 893-897
Ozmen, O.; Seker, I.; Kul, B.C.; Ertugrul, O. 2012: Haplotype variation of estrogen receptor-alpha (ER-alpha) gene exon 4 in Turkish sheep breeds Genetika 48(10): 1185-1189
Ying, B.W.; Tang, J.P.; Gao, Y.Z.; Chen, Y.L.; Li, Y.B.; Wu, J.; Zhang, J.; Shi, M.S.; Zhu, Q.F.; Zhou, X.K.; Hou, Y.P. 2003: Haplotype frequencies of three Y-chromosome STR loci in Tibetan ethnic group of Chinese population Journal of Forensic Sciences 48(2): 449-450
Tian, X.-F.; Li, Z.-J.; Wang, B.-J.; Ding, M.; Xuan, J.-F.; Xing, J.-X.; Li, C.-M.; Pang, H. 2009: Polymorphic distribution of FUT2/01 in northern Han Chinese population Fa Yi Xue Za Zhi 25(5): 345-347
Dong, J.; Huang, Z-wu.; Piao, J-hua.; Li, F.; Zeng, J.; Gong, J.; Yang, X-guang. 2008: Relationship between estrogen receptor gene Px haplotype and the effect of calcium and soy isoflavone supplementation on bone mineral density of Chinese postmenopausal women Zhonghua Yu Fang Yi Xue Za Zhi 42(5): 329-334
Grubić, Z.; Zunec, R.; Cecuk-Jelicić, E.; Kerhin-Brkljacić, V.; Kastelan, D.; Barać, L.; Janićijević, B.; Martinović, I.; Pericić, M.; Bennett, L.A.; Rudan, P.; Kastelan, A. 1998: HLA class Ii gene and haplotype diversity in the population of the island of Hvar, Croatia Collegium Antropologicum 22(1): 157-168
Trujillo, M.J.; Ayuso, C.; Robledo, M.; Sandoval, B.G.; Ramos, C.; Benitez, J. 1995: Polymorphic variations in peripherin-RDS gene in the Spanish population Annales de Genetique 38(4): 225-227
Jin, M.-J.; Liu, B.; Zhang, S.-S.; Zhang, Y.-J.; Xu, M.; Ma, X.-Y.; Yao, K.-Y.; Chen, K. 2008: Application of multifactor dimensionality reduction on the interactions between gene-gene, gene-environment and the risk sporadic colorectal cancer in Chinese population Zhonghua Liu Xing Bing Xue Za Zhi 29(6): 535-539
Morita, H.; Kurihara, H.; Sugiyama, T.; Hamada, C.; Yazaki, Y. 1999: A polymorphic variant C1367R of the Werner helicase gene and atherosclerotic diseases in the Japanese population Thrombosis and Haemostasis 82(1): 160-161
Bondarenko, E.A.; Mokan, E.I.; Barbakar, N.I.; Tupitsyna, T.V.; Slominskiĭ, P.A.; Shetova, I.M.; Shamalov, N.A.; Botsina, A.I.; Skvortsova, V.I.; Limborskaia, S.A. 2011: Analysis of the polymorphic variants of the PDE4D gene in patients with acute stroke in the Moldavian population Molekuliarnaia Genetika Mikrobiologiia i Virusologiia 2: 5-7
Adderson, E.E.; Azmi, F.H.; Wilson, P.M.; Shackelford, P.G.; Carroll, W.L. 1993: The human VH3b gene subfamily is highly polymorphic Journal of Immunology 151(2): 800-809
Wang, H.; Zhao, K.-p. 2011: Comparison of minor allele frequency and haplotype frequencies for single nucleotide polymorphisms in receptor tyrosine kinase-like orphan receptor 2 gene using HapMap data from Han Chinese in Beijing (CHB) and Japanese in Tokyo (JPT) Zhonghua Liu Xing Bing Xue Za Zhi 32(11): 1162-1165
Song, Z.; Casolaro, V.; Chen, R.; Georas, S.N.; Monos, D.; Ono, S.J. 1996: Polymorphic nucleotides within the human IL-4 promoter that mediate overexpression of the gene Journal of Immunology 156(2): 424-429
Fu, C.; Xie, J.; Chen, R.; Wang, C.; Xu, C.; Chen, C.; Wang, Z.; Lin, L.; Huang, W.; Liang, X.; Sung, K.L.Paul. 2013: Effect of titanium particles and TNF-alpha on the gene expression and activity of MMP-1, 2, 3 in human knee joint synovial cells Sheng Wu Yi Xue Gong Cheng Xue Za Zhi 30(5): 1022-1026
Beyaztas, F.Y.; Sezgin, I.; Gul, E.; Erkol, Z. 2007: Analysis of HumFABP2 as a polymorphic human genetic marker in the Turkish population Saudi Medical Journal 28(10): 1493-1495
Tsopanomichalou, M.; Sourvinos, G.; Arvanitis, D.; Michalodimitrakis, M. 2000: Analysis of eight polymorphic human genetic markers in a well-defined Greek population American Journal of Forensic Medicine and Pathology 21(2): 172-177
Dahlberg, E.; Thalén, A.; Brattsand, R.; Gustafsson, J.A.; Johansson, U.; Roempke, K.; Saartok, T. 1984: Correlation between chemical structure, receptor binding, and biological activity of some novel, highly active, 16 alpha, 17 alpha-acetal-substituted glucocorticoids Molecular Pharmacology 25(1): 70-78
Wang, J.-t.; Li, L.; Yuan, J.; Zhang, Z.-x. 2013: Correlation between Apolipoprotein e polymorphism and age at onset of Alzheimer's disease in a Chinese Han population Zhonghua Yi Xue Za Zhi 93(3): 182-186