基于序列分析的酪氨酸酶相关眼皮肤白化病诊断：成功对滤纸上干燥血斑中的酪氨酸酶基因进行序列分析。
Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper.
作者信息
Matsunaga J, Dakeishi-Hara M, Miyamura Y, Nakamura E, Tanita M, Satomura K, Tomita Y
机构信息
Department of Dermatology, Akita University School of Medicine, Japan.
出版信息
Dermatology. 1998;196(2):189-93. doi: 10.1159/000017897.
BACKGROUND
A large number of mutations of the tyrosinase gene result in oculocutaneous albinism (OCA). Therefore, at present, sequence analysis of the tyrosinase gene has become necessary to diagnose OCA patients and their relatives.
OBJECTIVE
The aim of this study was to facilitate the sequence-based diagnosis of tyrosinase-related OCA by using small amounts of the patient's blood.
METHODS
Blood spots dried on filter papers were used as sources of genomic DNA. The exons and flanking regions of the tyrosinase gene were amplified by polymerase chain reaction (PCR) and were directly sequenced in both directions.
RESULTS
We successfully amplified all exons of the tyrosinase gene by PCR and were able to characterize compound heterozygous mutations of R278X and + delta C310 in the patient's gene.
CONCLUSION
Recent advances of PCR-related technology allowed us to use fairly limited samples of blood for sequence analysis of the tyrosinase gene.
背景
大量酪氨酸酶基因突变会导致眼皮肤白化病（OCA）。因此，目前，对酪氨酸酶基因进行序列分析已成为诊断OCA患者及其亲属的必要手段。
目的
本研究旨在通过使用少量患者血液促进基于序列的酪氨酸酶相关OCA诊断。
方法
将干燥在滤纸上的血斑用作基因组DNA来源。通过聚合酶链反应（PCR）扩增酪氨酸酶基因的外显子及其侧翼区域，并进行双向直接测序。
结果
我们通过PCR成功扩增了酪氨酸酶基因的所有外显子，并能够鉴定出患者基因中R278X和+δC310的复合杂合突变。
结论
PCR相关技术的最新进展使我们能够使用相当有限的血液样本进行酪氨酸酶基因的序列分析。
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