DNA突变与人类butyrylcholinesterase J-variant。
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巴特尔CF,詹姆斯K,拉杜BN
DNA突变与人类butyrylcholinesterase J-variant。
50 J哼麝猫。1992可能;(5):1104 - 14所示。
- PubMed ID
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1349196 (在PubMed]
- 文摘
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人类血清的J-variant butyrylcholinesterase (BChE)导致减少约三分之二的循环酶分子和相应减少BChE活动存在于血清水平。由于血清BChE活动水平和琥珀酰胆碱呼吸暂停期间具有负相关性,这标志着活动使患者减少J-variant比平时更容易科目从琥珀酰胆碱长期呼吸暂停。我们重新调查同一家族加里等人发现了J-variant表现型。非典型、氟化物和K-variant亦发现了突变47-person血统的成员。DNA扩增的PCR,紧随其后的是放大DNA直接测序,发现了人类血清BChE J-variant表型与两个编码区基因点突变。其中一个与K-variant先前确定的突变表型(GCA - - - - - ACA;Ala539——刺)。另一个是adenine-to-thymine颠换1490核苷酸,它改变了氨基酸497缬氨酸谷氨酸(棉酚——侠盗猎车手;Glu497——Val)。后一个点突变被命名为J-variant突变(正式名称BCHE * 497 v)。 The J-variant mutation has not been identified without the K-variant mutation. The J-variant mutation created an RsaI-enzyme RFLP. Two additional point mutations, located in the noncoding regions of the gene, were also found to be linked with the J-variant and K-variant point mutations on the same allele. These noncoding polymorphic mutations had previously been found linked to the atypical and K-variant point mutations. A summary table shows dibucaine, fluoride, and Hoffmann-La Roche compound Ro 2-0683 inhibition numbers for 119 samples whose DNA has been sequenced. Eighteen BChE genotypes are represented.