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首页> 外文期刊>Journal of dermatological science >Establishment of tyrosinase sequence database in normally pigmented Indians and Japanese for rapid determination of novel mutations.
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Establishment of tyrosinase sequence database in normally pigmented Indians and Japanese for rapid determination of novel mutations.

机译：在常染色印第安人和日语中建立酪氨酸酶序列数据库，用于快速测定新型突变。

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BACKGROUND: Many mutations of the tyrosinase gene have been reported in oculocutaneous albinism type I (OCA1) patient. In the future, a greater number of novel mutations will be found as the search for pathological mutations in the tyrosinase genes of OCA patients from various ethnic origins. For rapid determination in future whether an observed mutation is a polymorphism or a novel pathological one, sequence databases of the gene of various ethnic people are needed. OBJECTIVE: We established a sequence database of the tyrosinase gene of Japanese as well as Indian people. METHOD: We collected DNA from 109 Japanese and 103 Indians with normal pigmentation and analyzed their tyrosinase gene using a direct sequencing method. RESULT: The database shows an apparent difference between the two ethnic groups in polymorphisms of the tyrosinase gene namely, Q402 allele, Y192 allele and IV2+24 insT were found in the Indian population, but not in the Japanese. On the other hand, some Japanese had IV2-21 insT but none of the Indians did. The database supports the notion that the tyrosinase gene evolved and extended separately in the two ethnic groups. And the developing database confirmed that the reported mutations causing Indian and Japanese OCA were not among the polymorphisms in the database, which conversely gives genetical proof of the "genuine" pathological mutations. CONCLUSION: Eventually, the sequence database we established will contribute to demonstrating novel mutations of albinism in Indians and Japanese.
机译：背景：在血管外形敏感型I（OCA1）患者中已经报道了许多酪氨酸酶基因的突变。将来，将发现更多的新突变作为从各种种族起源的OCA患者的酪氨酸酶基因中寻找病理突变。为了在将来的快速确定观察到的突变是多态性或新的病理学，需要各种民族人群的序列数据库。目的：我们建立了日本酪氨酸酶基因的序列数据库和印度人。方法：我们从109日日本和103名印第安人收集DNA，具有正常色素沉着，并使用直接测序方法分析它们的酪氨酸酶基因。结果：数据库显示了酪氨酸酶基因多态性的两个族群之间的表观差异，即Q402等位基因，y192 allele和IV2 + 24型在印度人群中，但不在日本中。另一方面，一些日本人有IV2-21 Inst，但印度人都没有。数据库支持酪氨酸酶基因在两个族群中分别演变和延伸的观点。该发展数据库证实，报告的突变导致印度和日本OCA的突变不是数据库中的多态性，这相反地给出了“真正”病理突变的遗传证据。结论：最终，我们建立的序列数据库将有助于在印第安人和日本人中展示白化病的新突变。

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