Genetic analysis of the UPB1 gene in two new Chinese families with β-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern China
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- 作者：Jianbo Shu (1)
Xiqian Lv (1)
Shuzhen Jiang (1)
Yuqin Zhang (3)
Chunhua Zhang (2)
Yingtao Meng (1)
Aiming Situ (4)
Haiquan Xu (3)
Li Song (1) - 关键词：β ; ureidopropionase deficiency ; Carrier frequency ; Genetic analysis ; Mutation ; UPB1
- 刊名：Child's Nervous System
- 出版年：2014
- 出版时间：December 2014
- 年：2014
- 卷：30
- 期：12
- 页码：2109-2114
- 全文大小：568 KB
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5. Nakajima Y, Meijer J, Dobritzsch D, Ito T, Meinsma R, Abeling NG, Roelofsen J, Zoetekouw L, Watanabe Y, Tashiro K, Lee T, Takeshima Y, Mitsubuchi H, Yoneyama A, Ohta K, Eto K, Saito K, Kuhara T, van Kuilenburg AB (2014) Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the p.977G-gt;?A (p.R326Q) mutation. J Inherit Metab Dis 14[Epub ahead of print]
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12. Assmann B, G?hlich G, Baethmann M, Wevers RA, Van Gennip AH, Van Kuilenburg AB, Dietrich C, Wagner L, Rotteveel JJ, Schaper J, Mayatepek E, Hoffmann GF, Voit T (2006) Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency. Neuropediatrics 37:20-5 CrossRef
13. Thomas HR, Ezzeldin HH, Guarcello V, Mattison LK, Fridley BL, Diasio RB (2008) Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism. Pharmacogenet Genomics 18:25-5 - 作者单位：Jianbo Shu (1)
Xiqian Lv (1)
Shuzhen Jiang (1)
Yuqin Zhang (3)
Chunhua Zhang (2)
Yingtao Meng (1)
Aiming Situ (4)
Haiquan Xu (3)
Li Song (1)
1. Tianjin Pediatric Research Institute, Tianjin Children’s Hospital, Tianjin, China
3. Department of Neurology, Tianjin Children’s Hospital, Tianjin, China
2. Department of Research & Development, MILS International, Kanazawa, Japan
4. Department of Gastroenterology, Tianjin Children’s Hospital, Tianjin, China - ISSN：1433-0350
文摘
Purpose The purpose of the study was to investigate mutations of the UPB1 gene in two Chinese families with β-ureidopropionase deficiency and the heterozygous carrier frequency in Chinese. Methods Genomic DNA was extracted from peripheral blood leukocytes from all available family members and 500 unrelated healthy controls. Then, all exons and flanking intron regions of the UPB1 gene were amplified by PCR and analyzed by direct sequencing in two patient-families. Finally, the carrier frequency of the c.977G>A (p.R326Q) mutation was identified by PCR restriction fragment length polymorphism in 500 healthy controls. Results The two patients had the same homozygous missense mutation in exon 9 (c.977G>A; p.R326Q), and the carrier frequency of this mutation was 2.8?% in the Northern Chinese population, which suggests that about 1:5,102 Chinese are expected to suffer from UPB1 deficiency. Conclusions The c.977G>A (p.R326Q) is the most common mutation of the UPB1 gene in Chinese. The predicted incidence indicates that β-ureidopropionase deficiency is significantly underdiagnosed in the Chinese population. It should be necessary to add β-ureidopropionase deficiency to high-risk screening for the symptomatic patients group.