Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.
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DOI：
10.1007/s10545-009-9008-7
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发表时间：
2010-02
影响因子：
4.2
通讯作者：
Tolan, Dean R.
中科院分区：
文献类型：
--
作者：
Coffee, Erin M.;Yerkes, Laura;Ewen, Elizabeth P.;Zee, Tiffany;Tolan, Dean R.
醛缩酶B基因（ALDO B）的突变损害了果糖-1-磷酸裂解的酶活性，导致遗传性果糖不耐受（HFI）。通过在疑似患者中鉴定已知的突变ALDOB等位基因可以诊断该疾病;然而，突变等位基因的频率可以因人群而异。在这里，分析了153名美国HFI患者的268个独立等位基因，以确定7个已知的HFI致病等位基因（A149 P，A174 D，N334 K，Δ 4 E4，R59 Op，A337 V和L256 P）在该人群中的患病率。等位基因特异性寡核苷酸杂交分析进行聚合酶链反应（PCR）扩增的基因组DNA从这些患者。在美国人群中，错义突变A149 P和A174 D是两种最常见的等位基因，频率分别为44%和9%。此外，无义突变Δ 4 E4和R59 Op是下一个最常见的等位基因，每个等位基因的频率为4%。所有七个等位基因的频率一起构成该人群中导致HFI的等位基因的65%。在世界范围内，这些相同的等位基因构成了82%的HFI引起的突变。这种差异表明，在美国人群中筛查常见的HFI等位基因更为困难。尽管如此，通过纳入本文研究的所有七个等位基因，可以改进美国诊断HFI的遗传筛查。最后，对表现出典型症状并具有纯合无效基因型的HFI患者的鉴定表明，醛缩酶B对于适当的发育或代谢维持是不需要的。
Mutations in the aldolase B gene (ALDOB) impairing enzyme activity toward fructose-1-phosphate cleavage cause hereditary fructose intolerance (HFI). Diagnosis of the disease is possible by identifying known mutant ALDOB alleles in suspected patients; however, the frequencies of mutant alleles can differ by population. Here, 153 American HFI patients with 268 independent alleles were analyzed to identify the prevalence of seven known HFI-causing alleles (A149P, A174D, N334K, Δ4E4, R59Op, A337V, and L256P) in this population. Allele-specific oligonucleotide hybridization analysis was performed on polymerase chain reaction (PCR)-amplified genomic DNA from these patients. In the American population, the missense mutations A149P and A174D are the two most common alleles, with frequencies of 44% and 9%, respectively. In addition, the nonsense mutations Δ4E4 and R59Op are the next most common alleles, with each having a frequency of 4%. Together, the frequencies of all seven alleles make up 65% of HFI-causing alleles in this population. Worldwide, these same alleles make up 82% of HFI-causing mutations. This difference indicates that screening for common HFI alleles is more difficult in the American population. Nevertheless, a genetic screen for diagnosing HFI in America can be improved by including all seven alleles studied here. Lastly, identification of HFI patients presenting with classic symptoms and who have homozygous null genotypes indicates that aldolase B is not required for proper development or metabolic maintenance.
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影响因子：
3.5
作者：
Esposito, G;Vitagliano, L;Salvatore, F
通讯作者：
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影响因子：
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作者：
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DOI：
10.1097/meg.0b013e3282f172e6
发表时间：
2008-02-01
影响因子：
2.1
作者：
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通讯作者：
Morrone, Amelia
影响因子：
168.9
作者：
CROSS, NCP;DEFRANCHIS, R;COX, TM
通讯作者：
COX, TM
DOI：
10.1016/0950-3528(90)90039-j
发表时间：
1990-03-01
期刊：
BAILLIERES CLINICAL GASTROENTEROLOGY
影响因子：
--
作者：
COX, TM
通讯作者：
COX, TM