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Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population  Isabel Fernandez-Carvajal, Paulina Walichiewicz,

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Presentation on theme: "Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population  Isabel Fernandez-Carvajal, Paulina Walichiewicz,"— Presentation transcript:

1 Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population  Isabel Fernandez-Carvajal, Paulina Walichiewicz, Xie Xiaosen, Ruiqin Pan, Paul J. Hagerman, Flora Tassone  The Journal of Molecular Diagnostics  Volume 11, Issue 4, Pages (July 2009) DOI: /jmoldx Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

2 Figure 1 Example of sizing of FMR1 alleles obtained from blood spots included in this study. Premutation alleles: lanes 2, 3, 4, 5, 8, 9, 11 and 13. Gray zone alleles: lanes 7, 10, and 12; normal alleles: lanes 1, 6, and 14. Lane 15: female control (30, 54 CGG size determined by sequencing). A DNA size marker 100 bp, 3 kb (Qiaxcel) was used to size the different alleles. The Journal of Molecular Diagnostics  , DOI: ( /jmoldx ) Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

3 Figure 2 Detection of large CGG repeat expansions using a CGG-targeting PCR primer. Lanes 1 and 4, the two full-mutation alleles identified in this study; lanes 2 and 3, normal alleles identified in this study; lanes 5 and 6, normal and full mutation controls; lane 7, negative control. The Journal of Molecular Diagnostics  , DOI: ( /jmoldx ) Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

4 Figure 3 Distribution of the sizes of the 5233 FMR1 alleles analyzed in the current study. The Journal of Molecular Diagnostics  , DOI: ( /jmoldx ) Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions


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