Molecular genetic study on maple syrup urine disease in Philippines

在菲律宾发现了许多枫糖浆尿病（MSUD）病例。为提高MSUD的早期诊断率，在大马尼拉开展了MSUD新生儿筛查，发现6例新生儿因嗅觉异常而确诊为MSUD。在我们以前的研究中，我们发现了一个独特的E2基因突变，并发现它是Philippino中的创始者突变。因此，在这6例新病例中分析了该突变。从外显子9至10延伸的区域的PCR应用显示没有缩短的产物。这表明这6名患者没有缺失突变。对E2基因的每一个外显子进行了序列分析，结果表明，菲律宾人E2基因的一种突变并不常见，但存在多种突变类型。

Many cases of maple syrup urine disease (MSUD) have been identified in the Philippines. To enhance early diagnosis of MSUD, applicability of neonatal screening of MSUD was examined in Metro Manila.Within this year 6 new MSUD patients were identified by finding abnormal smell in the very sick neonates. These patients were treated well and are developing well under the nutritional treatment.In our previous study one unique mutation of the E2 gene is identified and found as a founder mutation among Philippino. Therefore, this mutation was analyzed in these 6 new cases. PCR application of the region spreading from exon 9 to 10 showed no shortened product. This indicates that these 6 patients had no deletion mutations. Then every exon of the E2 gene is now under sequence examination.Our results indicate that one mutation is not common among Philippines but several types of mutation be presert.