Study on exons 3 and 4 of alpha-synuclein gene in Chinese familial Parkinson disease patients / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study the relationship of Chinese familial Parkinson disease with alpha-synuclein gene.</p><p><b>METHODS</b>Polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) and polymerase chain reaction-heteroduplex analysis(PCR-HA) were employed to detect the abnormal mobilization in the familial Parkinson disease and sporadic Parkinson disease patients, then it was verified by gene sequencing.</p><p><b>RESULTS</b>No mutation was found in alpha-synuclein gene exons 3 and 4 by PCR-SSCP together with PCR-HA. An inserted c and an inserted t were found in intron 4, position 23 and position 67 respectively.</p><p><b>CONCLUSION</b>(1) Exons 3 and 4 of alpha-synuclein gene are not the mutational hot spots of Chinese familial Parkinson disease. (2) Two polymorphisms were found in intron 4 of alpha-synuclein gene. They are 23 ins c and 67 ins t.</p>