Previous data on in vitro culture of Plasmodium falciparum malaria demonstrated that red cell glucose-6-phosphate dehydrogenase deficiency (G6PD-) inhibited parasite growth in deficient hemizygous males. This study investigated the effect of heterozygosity for G6PD- on parasite growth. Blood was obtained from 8 female Sardinian G6PD- heterozygotes with G6PD normal cells ranging from 13% to 60%....

During 1978-81 there were about 43,500 births in Birmingham, of which 10.3% were to Negroes and 22.6% to Asians. Cellulose acetate electrophoresis of red cell haemolysates from capillary specimens collected for phenylketonuria screening was performed for these babies to assess the feasibility, cost, and benefits of detecting sickle haemoglobinopathies early. Eight babies had important haemoglob...

By using both numerical and analytical approaches, we have shown that heterosis alone is not a mechanism for maintaining many alleles segregating at a locus. Even when all heterozygous are more fit than all homozygotes, the proportion of fitness arrays that will lead to a stable, feasible equilibrium of more than 6 or 7 alleles is vanishingly small. More alleles can be maintained if, in additio...

Bst EII identifies, a bi-allelic polymorphism in the human LDL receptor gene (l). The 33kb allelc cannot readily be distinguished from the 24kb fragment in the heterozygote using a 0.6 agarose gel. Lower percentage gels often cause handling problems. We suggest co-digestion of DNA with non-polymorphic enzymes such as Eco RI (or Bam HI). Figure 1 shows an autoradiograph of a Southern blot where ...

Familial Mediterranean fever is an autosomal recessive disorder characterized by sporadic, paroxysmal attacks of fever and serosal inflammation. In Familial Mediterranean fever, peritoneal effusion during abdominal attacks is usually mild, is not detected by clinical evaluation, and disappears during clinical remission. Chronic ascites has rarely been described in patients with Familial Mediter...

Reverse breeding (RB) is a novel plant breeding technique designed to directly produce parental lines for any heterozygous plant, one of the most sought after goals in plant breeding. RB generates perfectly complementing homozygous parental lines through engineered meiosis. The method is based on reducing genetic recombination in the selected heterozygote by eliminating meiotic crossing over. M...

Hemophilia A (HA) in females is rare. Female HA cases are often misdiagnosed as acquired HA (AHA) or as von Willebrand disease type 2N (vWD-2N). Here, we report the case of a 37-year-old female HA patient with a moderate factor VIII (FVIII) deficiency. The patient had no personal or family history of bleeding disorders, but presented with heavy uterine bleeding following surgery to remove an in...

An individual genotype of aldehyde dehydrogenase 2 was observed using nail clippings by an improved method consisting of DNA extraction with guanidium thiocyanate, genomic DNA amplification by non-isotopic polymerase chain reaction, and gel electrophoresis of the DNA fragment. The results were consistent with those obtained using the corresponding peripheral blood samples. The individual phenot...

The objective was to describe a family with autosomal recessive, early onset parkinsonism, with affected siblings carrying three different exon rearrangements in the parkin gene. The living affected siblings were personally examined. Molecular genetic analyses included exon dosage of the parkin gene using a semiquantitative multiplex polymerase chain reaction (PCR) protocol and haplotype analys...

In this paper the fitness of the ∆F508 heterozygote is assessed and the age of the ∆F508 mutation in the cystic fibrosis locus is estimated. Data from three microsatellite loci are applied. The analysis is performed conditional on the present-day frequency of the ∆F508 mutation and based on assumptions about the demographic history of the European population and the mutation rate in the three m...