163 research outputs found
An insight into the suspected HbA2' cases detected by high performance liquid chromatography in Pakistan
Background:Hemoglobin A2\u27 (delta 16 Gly Arg) is globally the commonest delta chain variant of HbA2. It is clinically and hematologically silent but its sole importance lies in the underestimation of HbA2 quantity during the workup of beta-thalassaemia trait. High performance liquid chromatography (HPLC) identifies it as a small S-window peak with a mean retention time of 4.59 0.03 minutes. This study aims at describing the frequency of detection of HbA2\u27 by HPLC in Pakistan and its confirmation at a molecular level. Potential HbA2\u27 cases were identified by a retrospective review of 10186 HPLC chromatograms in year 2006. Prospective samples were collected for polymerase chain reaction (PCR) amplification, restriction digestion and nucleotide sequencing.
Findings:
One hundred and ninety two potential cases (1.89%) of HbA2\u27 were detected on HPLC, having mean retention time of 4.59 0.05 minutes. Sixty four (0.6%) new cases were suspected of having co-existing beta-thalassaemia trait when the quantity of S-window peaks was taken into account. Thirteen samples with presumed HbA2\u27 on HPLC were subjected to molecular analysis and the said mutation (delta 16 GGC CGC) was not detected in any sample.
Conclusion:
It is concluded that diagnosis of HbA2\u27 on HPLC alone is not justified, as evidence of the presence of this delta chain variant in Pakistani population is yet to be proven. Such small S-window peaks should be either disregarded or confirmed at molecular level, and only then should influence the diagnosis of beta-thalassaemia trait. Further studies are required to determine the true nature of these peaks
Genetic analysis of an H-2 mutant, B6.C-H-2 ba , using cell-mediated lympholysis: T- and B-cell dictionaries for histocompatibility determinants are different
B6.C-H-2 ba [H (z1)] is a mutant derived from C57BL/6. The two strains mutually reject their skingrafts and are incompatible in the mixed leucocyte reaction (MLR) and in cell-mediated lympholysis (CML) assays. They are serologically indistinguishable.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/46732/1/251_2005_Article_BF01564084.pd
Mitochondrial DNA polymorphism analyzed by restriction endonucleases in two sardinian populations
Polymorphism of mitochondrial DNA by means of restriction endonucleases analysis has been studied in two sardinian isolates, formerly subjected to different selective pressure due to malaria. The mitochondrial DNA haplotype frequencies differ significantly between the two villages. An evaluation of variability through Wahlund variance analysis rules out selective factors and suggests drift
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