Sma I , Hha I, Msp I and Rsa I restriction fragment length polymorphisms in the von Willebrand factor gene of Chinese population

Objective To study Sma I, Hha I, Msp I and Rsa I restriction fragment length polymorphisms in vWF gene of Chinese population. Methods The vWF gene from 52 unrelated individuals of Han Nationality, 44 of Yi tribe, 42 of Dai tribe was analyzed by polymerase chain reaction and digestion of the endonucleases of Sma I, Hha I, Msp I and Rsa I. Results The allele frequencies were 0,38: 0.62 for Sma I⁺ : Sma I^- and 0.38:0.62 for Hha I⁺: Hha I^-; 0.20: 0.80 for Msp I⁺ : Msp I^-; 0.93: 0.07 for Rsa I⁺ : Rsa I^- in Chinese Han population. The theoretical heterozygous rates were 0.46, 0.46, 0.36 and 0.13 of these polymorphisms, respectively. The allele frequencies were 0.43: 0.57 for Sma I⁺ : Sma I^- and 0.43 :0.57 for Hha I⁺ : Hha I^-, 0.26:0.74 for Msp I⁺ : Msp^- in Yi tribe and 0.36:0.64 for Sma I⁺ : Sma I^- and Hha I⁺ : Hha I^-, 0.17: 0.83 for Msp I⁺ : Msp I^- in Dai tribe. The theoretical rates were 0.49 for Sma I and Hha I and 0.38 for Msp I in Yi tribe; and 0.45 for Sma I and Hha I , 0.28 for Msp I in Dai tribe, respectively. Conclusions The allele frequencies and theoretical rates of these polymorphisms in vWF gene are different between Chinese populations and Caucasians. They should be useful for the carrier detection and prenatal diagnosis in vWD families of Chinese.