Public Distribution Analysis For Clinic Features And Investigation Of JAK2 V617F、exon12 Point Mutations Of The Patients With Budd-Chiari Syndrome In The North Anhui

Objective: To understand the clinical epidemiology and JAK2V617 F, JAK2 exon12(K539L, N542-E543 del, H538QK539 L and F537-K539 delins L) point mutations of Budd-Chiari syndrome(Budd-Chiari Syndrome, BCS) in the north Anhui,which provide a basis evidence for the cause of BCS, and can provide help for the early diagnosis and treatment of BCS. Methods: We collected 554 cases of patients in the department of Vascular Surgery of the First Affiliated Hospital of Bengbu Medical College from January 2009 to December 2014 in the north Anhui,describing the epidemiological and clinical characteristics,then making statistical analysis;We collected 57 cases of patients with BCS and blood samples from healthy people in examinaton in medical center of the First Affiliated Hospital of Bengbu Medical College from August 2013 to March 2014 in the north Anhui,we extracted DNA and designed primers,and examined the point mutations of JAK2V617 F, JAK2 exon12(K539L, N542-E543 del, H538QK539 L and F537-K539 delins L). Results: 1.The proportion of male and female patients BCS is 1.4:1, and the theoretical population sex ratio is 1: 1, the difference was statistically significant(χ2=8.381,P=0.004), age ranges form 16 to 79 years old,mean age 47.4 years old; The course of most BCS is more than 1 years;the incidence of inferior vena cava obstruction was 62.3%, followed by hepatic vein type(25.5%),the mixed type was least(12.2%);Patients in rural areas accounted for 82.1%,patients in city accounted for 17.9%,farmers accounted for the majority of the occupational distribution(79.2%), followed by workers(7.2%),other occupation was few;The patients came from Bozhou City, Bengbu City, Suzhou City, Fuyang City in the north Anhui were more。 2. The mutations of JAK2V617 F, JAK2 exon12(K539L, N542-E543 del, H538QK539 L and F537- K539 delins L) were not detected in 57 cases patients. Conclusion: IVC is the main type of BCS,most of the BCS patients live around the Huaihe River region and their clinical features were obvious,but the cause of the disease is not Clear;JAK2V617F and JAK2 exon12(K539L, N542-E543 del, H538QK539 L and F537-K539delinsL) point mutations were not detected in patients with BCS, which may reveal the mutations have little effects on the BCS patients in the north Anhui.