MOLECULAR ANALYSIS OF ALDOLASE-B GENES IN HEREDITARY FRUCTOSE INTOLERANCE
MOLECULAR ANALYSIS OF ALDOLASE-B GENES IN HEREDITARY FRUCTOSE INTOLERANCE
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DOI：
10.1016/0140-6736(90)90603-3
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发表时间：
1990-02-10
期刊：
影响因子：
168.9
通讯作者：
COX, TM
中科院分区：
文献类型：
--
作者：
CROSS, NCP;DEFRANCHIS, R;COX, TM
应用聚合酶链反应（PCR）扩增醛缩酶B基因，对50例（41个家系，82个明显独立的醛缩酶B突变等位基因）遗传性果糖不耐受（HFI）的分子基础进行了研究。突变A149 P（ala 149 →）pro）在67%的等位基因中被发现，但在来自北方的患者中比来自南欧的患者明显更常见。鉴定了醛缩酶B的另外两个点突变。A174D（C → D）A; ala 174. asp）在来自意大利、瑞士和南斯拉夫的受试者中发现（总频率16%），但在来自英国、法国或美国的受试者中未发现。L288 Δ C携带单碱基对缺失，导致密码子288处的移码，并且仅限于西西里人。通过用有限的等位基因特异性寡核苷酸检测扩增DNA中的这些突变，超过95%的HFI患者将易于进行基因诊断。
The molecular basis of hereditary fructose intolerance (HFI) was studied in 50 subjects (41 pedigrees, 82 apparently independent mutant alleles of aldolase B) by direct analysis of aldolase B genes amplified by means of the polymerase chain reaction. The mutation A149P (ala 149 .fwdarw. pro) was found in 67% of alleles but was significantly more common in patients from northern than from southern Europe. Two other point mutations of aldolase B were identified. A174D (C .fwdarw. A; ala 174 .fwdarw. asp) was found in subjects from Italy, Switzerland, and Yugoslavia (overall frequency 16%) but not in those from the United Kingdom, France, or the United States. L288.DELTA.C carried a single base-pair deletion causing frameshift at codon 288 and was restricted to Sicilian subjects. By testing for these mutations in amplified DNA with a limited panel of allele-specific oligonucleotides, more than 95% of HFI patients will be susceptible to genetic diagnosis.