Presentation is loading. Please wait.

Presentation is loading. Please wait.

Three New Loci for Determining X Chromosome Inactivation Patterns

Published byVera Pranoto Modified over 6 years ago

Similar presentations

Presentation on theme: "Three New Loci for Determining X Chromosome Inactivation Patterns"— Presentation transcript:

1 Three New Loci for Determining X Chromosome Inactivation Patterns
Birgitte Bertelsen, Zeynep Tümer, Kirstine Ravn  The Journal of Molecular Diagnostics  Volume 13, Issue 5, Pages (September 2011) DOI: /j.jmoldx Copyright © Terms and Conditions

2 Figure 1 Fragment analysis results for the ZDHHC15, SLITRK4, and PCSK1N loci. Undigested (−HpaII) or digested (+HpaII) DNA was amplified with PCR, using the respective primer sets for the three loci. The fragment analysis was performed with GeneMapper software (Applied Biosystems). A: After HpaII digestion, DNA from the male individual (M1) cannot be amplified with PCR. B: Three phenotypically normal females (F1–F3) with extremely skewed X chromosome inactivation. F1 and F3 have Xq28 duplication and F2 has partial deletion of the NEMO gene. As seen on the lower panel, one of the alleles (as represented by PCR fragments, blue peaks) cannot be amplified by PCR after HpaII digestion. The red peaks represent the size standard 500 ROX. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © Terms and Conditions

Download ppt "Three New Loci for Determining X Chromosome Inactivation Patterns"

Similar presentations

Bone Marrow Transplant Engraftment Analysis with Loss of an Informative Allele  Steven A. Schichman, Pei Lin, Lori J. Gilbrech, Pamela S. Gray, Carla S.

Bone Marrow Transplant Engraftment Analysis with Loss of an Informative Allele  Steven A. Schichman, Pei Lin, Lori J. Gilbrech, Pamela S. Gray, Carla S.
Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease

Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease
Detection of Exon 12 Mutations in the JAK2 Gene

Detection of Exon 12 Mutations in the JAK2 Gene
Molecular Diagnostics in Preimplantation Genetic Diagnosis

Molecular Diagnostics in Preimplantation Genetic Diagnosis
Simultaneous Genotyping of α-Thalassemia Deletional and Nondeletional Mutations by Real-Time PCR–Based Multicolor Melting Curve Analysis  Qiuying Huang,

Simultaneous Genotyping of α-Thalassemia Deletional and Nondeletional Mutations by Real-Time PCR–Based Multicolor Melting Curve Analysis  Qiuying Huang,
Laila C. Schenkel, Charles Schwartz, Cindy Skinner, David I

Laila C. Schenkel, Charles Schwartz, Cindy Skinner, David I
Toward Universal Flavivirus Identification by Mass Cataloging

Toward Universal Flavivirus Identification by Mass Cataloging
The Clinical Implications of Inconsistently Methylated Results from Glioblastoma MGMT Testing by Replicate Methylation-Specific PCR  Daniel Xia, David.

The Clinical Implications of Inconsistently Methylated Results from Glioblastoma MGMT Testing by Replicate Methylation-Specific PCR  Daniel Xia, David.
Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy  Yu-jin Qu, Jin-li Bai, Yan-yan.

Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy  Yu-jin Qu, Jin-li Bai, Yan-yan.
Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease

Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease
Bruce E. Hayward, Karen Usdin  The Journal of Molecular Diagnostics 

Bruce E. Hayward, Karen Usdin  The Journal of Molecular Diagnostics 
Molecular Diagnosis of Autosomal Dominant Polycystic Kidney Disease Using Next- Generation Sequencing  Adrian Y. Tan, Alber Michaeel, Genyan Liu, Olivier.

Molecular Diagnosis of Autosomal Dominant Polycystic Kidney Disease Using Next- Generation Sequencing  Adrian Y. Tan, Alber Michaeel, Genyan Liu, Olivier.
Copy Number Variation Sequencing for Comprehensive Diagnosis of Chromosome Disease Syndromes  Desheng Liang, Ying Peng, Weigang Lv, Linbei Deng, Yanghui.

Copy Number Variation Sequencing for Comprehensive Diagnosis of Chromosome Disease Syndromes  Desheng Liang, Ying Peng, Weigang Lv, Linbei Deng, Yanghui.
Performance Evaluation of Two Methods Using Commercially Available Reagents for PCR-Based Detection of FMR1 Mutation  Jane S. Juusola, Paula Anderson,

Performance Evaluation of Two Methods Using Commercially Available Reagents for PCR-Based Detection of FMR1 Mutation  Jane S. Juusola, Paula Anderson,
Hou-Sung Jung, Gregory J. Tsongalis, Joel A. Lefferts 

Hou-Sung Jung, Gregory J. Tsongalis, Joel A. Lefferts 
Jeung-Yeal Ahn, Katie Seo, Olga Weinberg, Scott D. Boyd, Daniel A

Jeung-Yeal Ahn, Katie Seo, Olga Weinberg, Scott D. Boyd, Daniel A
Fragile X Syndrome The Journal of Molecular Diagnostics

Fragile X Syndrome The Journal of Molecular Diagnostics
Bruce E. Hayward, Yifan Zhou, Daman Kumari, Karen Usdin 

Bruce E. Hayward, Yifan Zhou, Daman Kumari, Karen Usdin 
Simultaneous Genotyping of α-Thalassemia Deletional and Nondeletional Mutations by Real-Time PCR–Based Multicolor Melting Curve Analysis  Qiuying Huang,

Simultaneous Genotyping of α-Thalassemia Deletional and Nondeletional Mutations by Real-Time PCR–Based Multicolor Melting Curve Analysis  Qiuying Huang,
Jennifer Kerkhof, Laila C

Jennifer Kerkhof, Laila C

Similar presentations

Ads by Google