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Blood, 15 December 2001, Vol. 98, No. 13, pp. 3840-3845
RED CELLS
Molecular basis of the adult i phenotype and the gene responsible
for the expression of the human blood group I antigen
Lung-Chih Yu,
Yuh-Ching Twu,
Ching-Yi Chang, and
Marie Lin
From the Transfusion Medicine Laboratory, Department of
Medical Research, and the Immunohematology Reference Laboratory, Mackay
Memorial Hospital, Taipei, Taiwan.
The human blood group i and I antigens are characterized as linear
and branched repeats of N-acetyllactosamine, respectively. Conversion of the i to the I structure requires the activity of I-branching  -1,6-N-acetylglucosaminyltransferase (IGnT).
Thus the blood group I gene is assigned to encode a
-1,6-N-acetylglucosaminyltransferase; however, its
identity has not been confirmed. The null phenotype of I, the adult i
phenotype, provides a means to identify the I gene.
Interestingly, the adult i phenotype has been noted to be associated
with congenital cataracts in Asians. Molecular genetic studies of 3 adult i pedigrees are reported here. The results obtained on mutation
detection within the 2 I-branching enzyme encoding genes, segregation
analyses, and enzyme function assays identify molecular changes
associated with the adult i phenotype. The adult i phenotype in 2 of
the pedigrees studied resulted from 1043G A and 1148GA mutations,
which predict Gly348Glu and Arg383His alterations, respectively, in the
IGnT gene. These amino acid changes abolished the original
GlcNAc-transferase activity. Deletion of the IGnT gene was
observed in the person with adult i phenotype in the third pedigree.
These findings suggest that the IGnT gene, first reported
in 1993, is the candidate for the blood group I gene.
Confirmation of the blood group I gene will further assist in the investigations of the molecular genetics that control I antigen
expression in secretions and the molecular basis for the association of
the adult i phenotype with congenital cataracts in Asians.
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