A Characterisation of the Lines Externaltoan Oval Cone in by Barwick S.G., Butler D.K.

By Barwick S.G., Butler D.K.

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Extra info for A Characterisation of the Lines Externaltoan Oval Cone in PG(3,q), q Even

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30. , and Modell, B. (2000) Accuracy of prenatal diagnosis for hemoglobin disorders in the United Kingdom: twentyfive years experience. Prenat. Diag. 20, 986–991. 31. Newton, C. , and Heptinstall, L. E. (1989) Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucl. Acids Res. 17, 2503–2516. 32. , Kellogg, D. , et al. (1990) Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type I model studies. Nucl. Acids Res.

The results show the fetus has sickle-cell trait. five RFLPs located in the 5' cluster (HindII/ε-gene; HindIII/Gγ-gene; HindIII/ Aγ-gene; HindII/3'ψβ-gene; and HindII/5'ψβ-gene), and two RFLPs in the 3' cluster (Ava II/β-gene; BamHI/β-gene) (36). 3. The primer sequences and sizes of the fragments generated are listed in Table 7. The BamHI RFLP is located within a L1 repetitive element, creating amplification problems. A HinfI RFLP located just 3' to the β-globin gene is used instead, because these two RFLPs have been found to exist in linkage disequilibrium (37).

Haplotype Analysis Linkage analysis of RFLPs within the β-globin gene cluster can often be used for prenatal diagnosis of β-thalassemia in the rare cases in which one or both of the mutations remain unidentified after screening using a direct detection method such as ARMS. The technique can also enable the prenatal diagnosis of uncharacterized δβ-thalassemia deletion mutations through the apparent non-Mendelian inheritance of RFLPs (owing to the hemizygosity created by the inheritance of deleted sequences on one chromosome).

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