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首页> 外文期刊>Pediatrics: Official Publication of the American Academy of Pediatrics >Association of neonatal hyperbilirubinemia with bilirubin UDP-glucuronosyltransferase polymorphism.
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Association of neonatal hyperbilirubinemia with bilirubin UDP-glucuronosyltransferase polymorphism.

机译：新生儿高胆红素血症与胆红素UDP-葡萄糖醛酸转移酶多态性的关系。

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摘要

OBJECTIVE: The incidence of nonphysiologic neonatal hyperbilirubinemia is twice as high in East Asians as in whites. We studied whether the condition was associated with mutations in the gene for bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1), a key enzyme of bilirubin catabolism. DESIGN: We analyzed the UGT1A1 gene in 25 Japanese neonates who had nonphysiologic hyperbilirubinemia (serum bilirubin >257 micromol/L) with no obvious cause. They had all received phototherapy. The background control population consisted of 50 Japanese neonates whose transcutaneous jaundice index was monitored during the first week of life. We detected mutations by direct sequencing of polymerase chain reaction-amplified fragments of the gene. RESULTS: We found a polymorphism for UGT1A1 in exon 1; a G-->A transition at nucleotide 211 caused arginine to replace glycine at position 71 of corresponding protein product (G71R). The frequency of the mutated allele in the hyperbilirubinemic group (0.34) was significantly higher (chi2 = 5.56) than in the control group (0.16). In the control group the peak transcutaneous jaundice index of the carriers of G71R was significantly higher than it was in the normal infants. CONCLUSIONS: The missense mutation causing G71R is the first reported polymorphism for UGT1A1, and the mutation is a risk factor for nonphysiologic neonatal hyperbilirubinemia. The high incidence of hyperbilirubinemia in the Japanese may be attributable to the high frequency of this missense mutation.
机译：目的：东亚地区非生理性新生儿高胆红素血症的发生率是白人的两倍。我们研究了该疾病是否与胆红素尿苷5'-二磷酸-葡萄糖醛酸转移酶（UGT1A1）（胆红素分解代谢的关键酶）的基因突变相关。设计：我们分析了25例无生理性高胆红素血症（血清胆红素> 257微摩尔/升）的日本新生儿的UGT1A1基因，无明显原因。他们都接受了光疗。背景对照人群由50名日本新生儿组成，他们在生命的第一周内监测了经皮黄疸指数。我们通过对基因的聚合酶链反应扩增片段进行直接测序来检测突变。结果：我们在外显子1中发现了UGT1A1的多态性。核苷酸211处的G-> A转换导致精氨酸取代了相应蛋白质产物（G71R）71位的甘氨酸。高胆红素血症组的突变等位基因频率（0.34）明显高于对照组（0.16）（chi2 = 5.56）。在对照组中，G71R携带者的峰值经皮黄疸指数明显高于正常婴儿。结论：引起G71R的错义突变是UGT1A1的第一个报道的多态性，并且该突变是非生理性新生儿高胆红素血症的危险因素。日本人高胆红素血症的高发生率可能归因于这种错义突变的频繁发生。

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