Cis AB inheritance, scenario 1.1: in the AB parent, one allele is AB and other is O
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Cis AB is a type of rare mutation in the ABO gene. It happens when the transferase allele contains a mix of amino acids from either A or B alleles, producing a bifunctional enzyme that can produce both types of antigens, usually with one weaker than the other. This results in a serum test result much like the standard, separate (trans) AB phenotype, although the weaker antigen can occasionally fail to be detected. It complicates the basic inheritance pattern (as the allele comes from one parent only) and blood-transfusion compatibility matching for ABO blood typing.
Different DNA mutations of either type A or Type B alleles change 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 switch type B to type A and then, a new hybrid enzyme can produce both weak B and A2 (in serum test, A2B, and A2B3). The most common mutation is an A105 allele variation in exon 7 nucleotide position G803C changing glycine (type A) to alanine (type B). Another 8 alleles are reported in BGMUT, most recently in China and Taiwan. Some Cis-AB carriers need components like washed red blood cells or autotransfusion of serum and blood.
Cis-AB type was studied first in humans in Japan (Shikoku Island) and South Korea (Gwangju area) where this rare type is more common (Chinese coast provinces and Taiwan also), although it is 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 negative, a mother type O and their baby of type cis-AB. Since then, several cases in the United States have been reported.[1] Antigen expression is weaker than A1 or B.
^Yazer, Mark H.; Olsson, Martin L.; Palcic, Monica M. (2006). "The cis-AB Blood Group Phenotype: Fundamental Lessons in Glycobiology". Transfusion Medicine Reviews. 20 (3): 207–217. doi:10.1016/j.tmrv.2006.03.002. PMID 16787828.
Regular (trans) AB versus cisABCisAB is a type of rare mutation in the ABO gene. It happens when the transferase allele contains a mix of amino acids...
can have an AB child. A couple with type A and type B can also have a type O child if they are both heterozygous (IBi and IAi). The cis-AB phenotype has...
OCLC 11337636. NAID 10008616088. Yazer M, Olsson M, Palcic M (2006). "The cis-AB blood group phenotype: fundamental lessons in glycobiology". Transfus Med...
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