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By Kennedy R.J.

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Extra resources for A Refinement of the Michelson-Morley Experiment

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The resulting severe fetal anemia leads to asphyxia, hydrops fetalis, and stillbirth or neonatal death. Prenatal diagnosis is always indicated to avoid the severe toxemic complications that occur frequently in pregnancies with hydropic fetuses. HbH disease results from the compound heterozygous state of α0-and + α -thalassemia (--/-α), or more rarely, from the homozygous state of nondeletion α+-thalassemia mutations affecting the more dominant α2 gene (αTα/αTα) (22). Individuals with HbH disease have a moderately severe hypochromic microcytic anemia and produce large amounts of HbH (β4) as a result of the excess β-chains in the reticulocyte.

Maternal DNA contamination must be excluded in all cases in which the fetal diagnosis is the same genotype as the mother. The risk of maternal DNA contamination is much lower in cases where the fetus is normal, homozygous, or has inherited a mutation different from that carried by the mother. 4. The aforementioned precautions form a best code of practice for minimizing errors in prenatal genetic testing for any genetic disorder. The guidelines for best practice are: a. Ensure that fresh parental blood samples are obtained with the fetal sample in order to check the parental phenotypes and to provide fresh control DNA samples.

Further screening of the known rare mutations will identify the defect in another 10–15% of cases if necessary. Mutations remaining unidentified at this stage are characterized by DNA sequencing. The first PCR-based method to gain widespread use was the hybridization of ASO to amplified DNA bound to nylon membrane by dotblotting (15). 38 Old Although still in use, the method is limited by the need for separate hybridization steps to test for multiple mutations. This was overcome by the development of the reverse dotblotting technique, in which amplified DNA is hybridized to a panel of mutation-specific probes fixed to a nylon strip.

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