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" Detection of rare unbalanced translocation (X; 7)(q13.3; p12.1) breakpoints using single nucleotide polymorphism microarrays "
Lama Suleman Almohlesy
Afzal, Muhammed N.
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Latin Dissertation
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| Language of Document
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English
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| Record Number
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803918
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| Doc. No
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TL48727
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| Call number
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1785395630; 10101168
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| Main Entry
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Earnhart, Cari L.
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| Title & Author
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Detection of rare unbalanced translocation (X; 7)(q13.3; p12.1) breakpoints using single nucleotide polymorphism microarrays\ Lama Suleman AlmohlesyAfzal, Muhammed N.
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| College
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Alfaisal University (Saudi Arabia)
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| Date
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2015
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| Degree
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M.S.
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| field of study
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College of Medicine
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2015
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| Page No
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44
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| Note
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Committee members: De Meersman, Ronald E.; Kaya, Namik; Khraibi, Ali A.
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| Note
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Place of publication: United States, Ann Arbor; ISBN=978-1-339-64993-1
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| Abstract
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This research was aimed at detecting gross chromosomal abnormalities in patients suspected of having cytogenetic abnormalities. Molecular cytogenetic analyses was done on patients (n=5) followed by fine-scale breakpoint analysis on those who were found to have an unbalanced translocation of chromosomes 7p (gain) and Xq (loss) arms. The cytogenetic analysis was performed using Affymetrix’s most comprehensive and highest density arrays that have both single nucleotide polymorphism (∼750,000) and copy number (∼1,950,000) probes. The data was analyzed and visualized by means of Chromosome Analysis Suite (ChAS) software provided by Affymetrix Inc. A detailed break point analysis indicated that the gain in 7p does not cause any intragenic disruption. In contrast loss on Xq leads to breakage of <i>ABCB7</i>. The deleted region on chromosome X contains 330 genes whereas the duplicated region on chromosome 7 comprises 165 genes. This study was the first to detect this rare abnormality among different ethnic groups including Saudis and Arabs. <i> ABCB7</i> breakage may lead to infertility, dysmorphic head, developmental delay and amenorrhea disease seen in these patients. Further investigations are needed to explore involvement of <i>ABCB7</i> in human infertility and development.
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| Subject
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Genetics; Medicine; Public health
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| Descriptor
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Biological sciences;Health and environmental sciences;ABCB7 gene;Chromosomal abnormalities;Cytogenetic abnormalities;Molecular cytogenetic analyses;Saudi Arabia;Unbalanced translocation of chromosomes
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| Added Entry
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Afzal, Muhammed N.
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| Added Entry
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College of MedicineAlfaisal University (Saudi Arabia)
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