超級血型Cis-AB09 自己儲存血液自己用

B血型的父母生出AB血型的女兒，世界上首次發現"突變AB型"血型 OCTOBER 21, 2015 07:26 柳根亨記者 (noel@donga.com) 음성듣기父母都是B血型，但生出的子女卻是AB型。世界上首次發現"突變AB型(Cis-AB09)"血型。從遺傳學角度來看，通常父母都是B型的話，子女是B型或O型。三星首爾醫院教授趙德和順天鄉大學醫院教授申熙峰20日表示，在國際學術雜誌《輸血醫學》最新一期上刊登了上述內容的論文。趙教授指出，"在國際血庫上出現Cis-AB09血型尚屬首次。"首個被判定為Cis-AB09血型的人是一名29歲的女性，研究組在她為了卵巢囊腫手術而進行血液檢查的過程中發現了這一事實。 通常達到普通人的10 ~ 15%的普通AB型，大部分是從父母一方獲得A血型遺傳基因，從另一方獲得B血型遺傳基因。相反，能同時從父母中的任何一方繼承AB血型遺傳基因特性的AB型情況則被分類為Cis-AB血型，從Cis-AB01血型到Cis -AB08血型都有。此次發現的Cis-AB09血型，即使在Cis-AB血型中也是很罕見的情況。因為這是一種沒有從父母那裏得到遺傳基因的突變。趙教授解釋稱，"與引起遺傳基因突變的祖上一代不同的新的遺傳基因誕生。"像這種Cis-AB09血型無法從現有AB型身上接受輸血，只能從O型人身上接受輸血。研究組說，"碰到像這樣稀有血型的情況，平時最好儲存起自己的血液。"

Cis AB is a rare mutation in the ABO gene which complicates the basic inheritance pattern and blood-transfusion compatibility matching for ABO blood typing. There are different DNA mutations either type A or Type B alleles that change several amino acids in enzyme transferase A or B, homologous enzymes differing in only four of 354 amino acids (R176G, G235S, L266M, and G268A). A single change in ABO gene DNA could reverse type B to type A and then, a new hybrid enzyme B will produce a bit of A antigen (in serum test, A2B). The most common mutation is an A102 allele variation in exon 7 nucleotide position G803C changing Glycine (type A) to Alanine (type B). In the cis-AB genotype, both antigens are expressed, like in a standard (trans) AB genotype. In a traditional AB phenotype, A and B antigenes are inherited separately from the father and mother while a cis-AB allele comes from one parent only. In a serum test, cis-AB tests almost the same as a traditional AB, but people with this rare type have problems with blood transfusions. Some of them need components like washed red blood cells or autotransfusion of serum and blood. Cis-AB type was studied first in Japan (Shishoku Island) and South Korea (Gwanju area) where this rare type is more common (Chinese coast provinces and Taiwan, too), although it is also seen in a few European families (from France, Spain, Belgium, Germany, and Poland). In the year 2004, the American Red Cross described a family in Nebraska with a father of type cis-AB rh negative, a mother type O and their baby of type cis-AB. Since then, several cases in America have been reported. Antigen expression is weaker than A1 or B.