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© 1994 Oxford University Press

OTHER

Identification of two mutant alleles of transcobalamin II in an affected family

Ning Li1,2, David S. Rosenblatt3, Barton A. Kamen4, Shakuntla Seetharam1 and Bellur Seetharam1,2,*

1Departments of Medicine, Medical College of Wisconsin and Veterans Administration Medical Center Milwaukee, Wl 53226, USA, 2Departments of Biochemistry, Medical College of Wisconsin and Veterans Administration Medical Center Milwaukee, Wl 53226, USA, 3MRC Genetics Group and Departments of Medicine, Human Genetics, Pediatrics and Biology, McGill University Montreal, Quebec, Canada 4Departments of Pediatrics and Pharmacology, Southwestern Medical School Dallas, TX, USA

*To whom correspondence should be addressed at: GI Division, MACC Fund Center, Room 6061, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA

Received June 14, 1994; Revised August 9, 1994; Accepted August 9, 1994

Transcobalamin II (TC II) deficiency is a rare autosomal recessive disease leading to cobalamin (Cbl; Vitamin B12) deficiency characterized by failure to thrive, megaloblastic anemia, impaired immunodefence and neurological manifestations. By means of Southern blotting and sequence analysis of TC II cDNA amplified from fibroblasts of an affected child and his parents, we have identified two mutant TC II alleles, one with a gross deletion and the other with a 4 nucleotide deletion. Both the mutations caused TC II mRNA and protein deficiency and hence defective plasma transport of Cbl and the development of Cbl deficiency in the affected child. The present study has identified molecular defects that cause TC II deficiency and lead to intracellular Cbl deficiency in humans.


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