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1.
Figure 3

Figure 3. From: Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA.

Amplification Plots for 88 Male Dried Blood Spot Samples Tested Simultaneously via Q-MSP for Methylated FMR1 DNA
Right panel: amplification plot for Fam-labeled TaqMan probe specific for methylated FMR1 DNA. Left panel: amplification plot for Hex-labeled TaqMan probe specific for unmethylated FMR1 DNA. Each line represents a single sample.

Bradford Coffee, et al. Am J Hum Genet. 2009 October 9;85(4):503-514.
2.
Figure 2

Figure 2. From: Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA.

Proportion of Methylated FMR1 DNA Detected in 25 Different FXS Males and Three KS Males
Methylated FMR1 DNA was quantified by Q-MSP and is expressed as the percentage of methylated DNA (amount of methylated FMR1 DNA / amount of methylated FMR1 DNA + amount of unmethylated FMR1 DNA). The height of the bar corresponds to the mean amount of methylated FMR1 DNA from three measurements, with the error bars representing 1 SD.

Bradford Coffee, et al. Am J Hum Genet. 2009 October 9;85(4):503-514.
3.
Figure 5

Figure 5. From: Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA.

Amplification Plots of Pools of 96 Male Dried Blood Spot Samples with or without a Mosaic Male with FXS
The red lines represent the pooled sample containing one mosaic FXS male dried blood spot mixed with 95 dried blood spots from normal males. The blue lines represent the sample containing 96 dried blood spots from normal males.
(A) Amplification plot for TaqMan probe specific for methylated FMR1 DNA.
(B) Amplification plot for TaqMan probe specific for unmethylated FMR1 DNA.

Bradford Coffee, et al. Am J Hum Genet. 2009 October 9;85(4):503-514.
4.
Figure 6

Figure 6. From: Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA.

Southern Blot with the Use of DNA Isolated from the Dried Blood Spot Card from One of the FXS Males Identified in the Screen, Sample 1419F10
Lane 1. normal male control. Lane 2. sample 1419F10. Lane 3. normal female control. Lane 4. FXS genomic DNA control. Lane 5. molecular weight marker.

Bradford Coffee, et al. Am J Hum Genet. 2009 October 9;85(4):503-514.
5.
Figure 1

Figure 1. From: Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA.

FMR1 Promoter Sequence Targeted for DNA Methylation Analysis
The sequence of the FMR1 promoter from position −192 to position +59 is shown. The top line is the genomic reference (Ref.). The second line represents the sequence after sodium bisulfite treatment and PCR amplification if every cytosine in each CpG is methylated (Meth.). The third line represents the sequence after sodium bisulfite treatment and PCR amplification if every cytosine in each CpG is unmethylated (Unmeth.). The amplification primers are underlined, and the TaqMan probes are indicated by the shaded boxes. The CpGs targeted by the TaqMan probes are underlined and in bold. The transcription start site is indicated by the arrow.

Bradford Coffee, et al. Am J Hum Genet. 2009 October 9;85(4):503-514.
6.
Figure 4

Figure 4. From: Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA.

Quantification of Methylated FMR1 DNA in 33 Females Who Carry the Full-Mutation Allele
The proportion of methylated FMR1 DNA was quantified by Q-MSP and is expressed as a percentage of total FMR1 DNA. Thirteen normal females with normal FMR1 alleles are represented by the green bars on the right-hand side of the graph. The 33 females carrying the full mutation are represented as follows: affected full mutation, red bars; unaffected full mutation, dark blue bars; and full mutation with no phenotypic information, white bars. The height of the bar corresponds to the mean amount of methylated FMR1 DNA from three measurements, with the error bars representing 1 SD. The normal range of methylation (normal female mean ± 2 SD) is represented by the shaded box.

Bradford Coffee, et al. Am J Hum Genet. 2009 October 9;85(4):503-514.

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