The Research About The Clinical Feature And Genetic Mutation Of PD Family In North China

Parkinson Disease (PD) is a kind of nervous centralis systemic denaturalization which develops slowly among middle or elderly aged people. Because of the complexity of the pathogeny and pathogenesis, PD hasn't been learned completely. There have been many researches suggesting that the genetic factors, environmental factors and the aging play an important part during the process of paroxysm of PD. Among them, genetic factors have drawn much attention, in additon, the researches in this aspect have made gross progress. In 1997, Polymeropoulos found the pathogenic gene---- a-synuclein in an Italian family, the achievements of this research has been regarded as one of the most remarkable events. Up to now,16 genetic mutations which are related to family PD have been reported around the world. Moreover,9 pathogenic genes have been cloned. Researchers also found that genetic mutation is also related to divergent PD. China is a country with a large population, but the creative research achievements about PD are lacking and the new pathogenies related to PD haven't been found, therefore, it's very meaningful to do the research about genetics in China.This project chose a PD family in Tonghua city Jilin Province. The author did the on-the-spot research and eliminated the possibility of environmental factor, and this family can be diagnozed the primary PD family. The author drew the genetic family tree, did the PD scale measure and other secondary examination on the basis of signing contract with the family members and collecting clinical materials. There are 33 family members in 4 generation, among them,13 people (both males and females) from every generation are PD patients (4 people have passed away),6 people are suspicious. Their genetic form is chromosome dominant inheritance. The PD patient in this family get the disease at the age of 46 to 65, and its development is slow, the early smptoms of the clinical manifestation is tremble, tetanus and the abnormal of tred at the same time, moreover every patient has different agree of non-motional symptoms, in which astriction, sleep-disorder, depression and ephidrosis can be commonly seen, the harm of autonomic nerves and intellect is unconspicuous. The drug therapy of taking levodopa is effective, and these family members who takes levodopa for a long time don't have the motion-disorder or symptom fluctuation caused by levodopa. This is a PD family with obvious genetic relations and many patients of autosoma dominant inheritance.At the very beginning, the author checks 7 sites of point mutation of autosoma dominant inheritance of PD. These 7 genetic point mutations are No.3 and No.4 ectrons in PARK1, No.4 ectron in PARK5, No.31 and No.48 extron in PARK8, NO.2 and No.14 extrons in GIGYF. It turns out that there is a T-base deletion mutation in No.4 extrons in PARK1 of every family member. It is obvious that the genetic mutation of No.4 extron in PARK1 is the important inherited factor in this family. Later the author did the chain analysis of three known autosoma dominant inheritance of PD genes in this family, and set up the STR polymorphism sign which spans chromosome sites of PARK1 and PARK5. After the chain analysis, the author found that the genetic mutation of No.4 extron is the pathogenic gene in this family.This project researches the clinical feature and the genic mutation sites of a PD family in north China; it confirms that 140bp-180bpl66 base of No.4 extron in PARK1 (T-base deletion) is the important inherited factor in this PD family. The project provides partial scientific proof for the aetiological research about family PD.