Roubinet Francis, Janvier Daniel, Blancher Antoine
Department of Immunohematology, French National Blood Service, Pyrénées Méditerranée, Toulouse, France.
Transfusion. 2002 Feb;42(2):239-46. doi: 10.1046/j.1537-2995.2002.00030.x.
The very rare cis AB phenotype, first described in 1964, corresponds to a special ABO allele encoding a glycosyltransferase that is capable of synthesizing both A and B substances. Until now, gene sequences of only two cis AB alleles were partially characterized. One involved the A102 allele with a single nonsynonymous substitution at codon 268, whereas the second arose from a single nonsynonymous substitution at codon 266 in exon 7 of a B101 allele.
A cis AB phenotype was identified in a French family. The serologic characteristics of this phenotype were determined. The cis AB allele was characterized from exon 6 to exon 7 by cloning and sequencing.
The cis AB.tlse()01 allele is identical to B(1)01 except for a single point mutation at nucleotide position 700, where a T replaces a C, implying a change of amino acid 234 (the B(1*)01 proline being replaced by a serine).
The cis AB.tlse(*)01 allele clearly differs from all previously reported ABO, including the two previous cis AB described.
极为罕见的顺式AB血型表型于1964年首次被描述，它对应一种特殊的ABO等位基因，该基因编码一种能够合成A和B物质的糖基转移酶。截至目前，仅对两个顺式AB等位基因的基因序列进行了部分特征分析。一个涉及A102等位基因，其在密码子268处有一个非同义替换，而另一个则源于B101等位基因第7外显子密码子266处的一个非同义替换。
在一个法国家庭中鉴定出一种顺式AB血型表型。确定了该表型的血清学特征。通过克隆和测序从第6外显子到第7外显子对顺式AB等位基因进行了特征分析。
顺式AB.tlse()01等位基因与B(1)01相同，只是在核苷酸位置700处有一个单点突变，其中T取代了C，这意味着氨基酸234发生了变化（B(1*)01的脯氨酸被丝氨酸取代）。
顺式AB.tlse(*)01等位基因明显不同于所有先前报道的ABO等位基因，包括之前描述的两个顺式AB等位基因。
