Summary of the partial deletion of intron 1 found in persons with phenotypes Bm and ABm
Phenotypes . | Presence of deletion* . | Absence of deletion . |
---|---|---|
Bm | 72† | 1 |
ABm | 39 | 0 |
B3 | 0 | 1‡ |
A1B3 | 0 | 2§ |
Bx | 0 | 2¶ |
A | 0 | 341 |
B | 0 | 227 |
O | 0 | 304 |
AB | 0 | 133 |
Phenotypes . | Presence of deletion* . | Absence of deletion . |
---|---|---|
Bm | 72† | 1 |
ABm | 39 | 0 |
B3 | 0 | 1‡ |
A1B3 | 0 | 2§ |
Bx | 0 | 2¶ |
A | 0 | 341 |
B | 0 | 227 |
O | 0 | 304 |
AB | 0 | 133 |
A partial deletion of intron1 was detectable by the appearance of a 0.9-kb band in PCR4. Discrete variables were compared between 2 phenotypes, Bm including Bm and ABm, and B including B and AB, using the Fisher exact test (P < .00001).
Seventy-one people were heterozygous for the deletion; 1 person was assumed to be homozygous on the basis of PCR4 and direct sequencing of exons 6 and 7.
Nucleotide substitution of C with T at position 278 of the cDNA was demonstrated on the B allele by sequencing, based on the method reported previously.5
Nucleotide substitution of C with T at position 278 was demonstrated on the B allele in one person, while C was substituted with T at 1054 in the other.
Nucleotide substitution of C with T at position 721 was demonstrated on the B allele.