中华内分泌代谢杂志
中華內分泌代謝雜誌
중화내분비대사잡지
CHINESE JOURNAL OF ENDOCRINOLOGY AND METABOLISM
2009年
2期
150-151
,共2页
宋璐璐%蒋玲%王甲莉%王慧%周海斌%张晓黎
宋璐璐%蔣玲%王甲莉%王慧%週海斌%張曉黎
송로로%장령%왕갑리%왕혜%주해빈%장효려
先天性肾上腺皮质增生症%CYP21基因%突变%酶活性测定
先天性腎上腺皮質增生癥%CYP21基因%突變%酶活性測定
선천성신상선피질증생증%CYP21기인%돌변%매활성측정
Congenital adrenal hyperplasia%CYP2 1 gene%Mutation%Enzyme assay
对两个单纯男性化型21-羟化酶缺陷症(21-OHD)患者CYP21A2基冈突变P459H和R483W进行体外功能学研究,构建携带点突变P459H和R483W的真核表达载体,转染哺乳动物细胞COS-7,测定孕酮转化为11.脱氧皮质酮的转化率,P459H突变的21-羟化酶残余活性为6.8%,R483W则为2.9%.
對兩箇單純男性化型21-羥化酶缺陷癥(21-OHD)患者CYP21A2基岡突變P459H和R483W進行體外功能學研究,構建攜帶點突變P459H和R483W的真覈錶達載體,轉染哺乳動物細胞COS-7,測定孕酮轉化為11.脫氧皮質酮的轉化率,P459H突變的21-羥化酶殘餘活性為6.8%,R483W則為2.9%.
대량개단순남성화형21-간화매결함증(21-OHD)환자CYP21A2기강돌변P459H화R483W진행체외공능학연구,구건휴대점돌변P459H화R483W적진핵표체재체,전염포유동물세포COS-7,측정잉동전화위11.탈양피질동적전화솔,P459H돌변적21-간화매잔여활성위6.8%,R483W칙위2.9%.
Mutations P459H and R483W detected in CYP21A2 gene in two Chinese patients with simple virilizing 21-hydroxylase deficiency were studied.Plasmid vectors containing P459H and R483W were constructed and transfected into COS-7 cells.The converting rate of progesterone to 11-desoxycortisone was calculated.P459H reduce 21-hydroxylase activity to 6.8%,while the residual enzyme activity of R483W was only 2.9%.
