As expected, different homozygotes
were separated by [T.
Each run contained a non-template control (NTC) and three known genotype individuals including wild-type, heterozygote, homozygote
from sequencing verified reference sequence types as the standards.
31-33) The frequency of homozygotes
with two M694V mutations was higher in the colchicine-resistant group (37% versus 18.
Genotype distributions of patients were as follows; 57% of the sample were Gly460Gly homozygotes
(Group 1, n=28), 4% were Trp460Trp homozygotes
and 39% were Gly460Trp heterozygotes.
Because of the small numbers in both H63D and C282Y homozygotes
groups, our study population was further merged into two categories indicating the presence of any H63D or C282Y allele.
Through many personal experiences in Haiti the author has observed several problems regarding the identification of sickle hemoglobin and the differentiation of sickle heterozygotes from homozygotes
13) In a similar study dual therapy with 20 mg OPZ (bid) and 500 mg AMC (qid) for 1 wk demonstrated 100 per cent eradication in Japanese mutant homozygotes
compared to 40 and 42 per cent in normal homozygotes
and heterozygotes, respectively.
MDA) without the II homozygotes
, these differences become quite evident in both genders (Table 3).
Hereditary deficiency of this enzyme is a rare cause of a lifelong bleeding disorder, and homozygotes
for this autosomal recessive disorder have <1% factor XIII activity (2).
In a case-controlled study, among men aged less than 40 years who were referred for coronary angioplasty, the frequency of homozygotes
for the [epsilon]4 allele was 16-fold higher than in healthy subjects.
2%, whereas the risk is far higher in homozygotes
, at 16%-17%.
Control DNAs from HFE normal individuals, C282Y and H63D heterozygotes, and C282Y homozygotes
also produced the expected band patterns (data not shown).