Table 6

Summary of the partial deletion of intron 1 found in persons with phenotypes Bm and ABm

PhenotypesPresence of deletion*Absence of deletion
Bm 72 
ABm 39 
B3 1 
A1B3 2§ 
Bx 2 
341 
227 
304 
AB 133 
PhenotypesPresence of deletion*Absence of deletion
Bm 72 
ABm 39 
B3 1 
A1B3 2§ 
Bx 2 
341 
227 
304 
AB 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.

§

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.

Close Modal

or Create an Account

Close Modal
Close Modal