عنوان
پدید آورنده
موضوع
رده
کتابخانه
محل استقرار
TL48727
انگلیسی
Detection of rare unbalanced translocation (X; 7)(q13.3; p12.1) breakpoints using single nucleotide polymorphism microarrays
[Thesis]
Lama Suleman Almohlesy
Afzal, Muhammed N.
Alfaisal University (Saudi Arabia)
2015
44
Committee members: De Meersman, Ronald E.; Kaya, Namik; Khraibi, Ali A.
Place of publication: United States, Ann Arbor; ISBN=978-1-339-64993-1
M.S.
College of Medicine
Alfaisal University (Saudi Arabia)
2015
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 ABCB7. 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. ABCB7 breakage may lead to infertility, dysmorphic head, developmental delay and amenorrhea disease seen in these patients. Further investigations are needed to explore involvement of ABCB7 in human infertility and development.
Genetics; Medicine; Public health
Biological sciences;Health and environmental sciences;ABCB7 gene;Chromosomal abnormalities;Cytogenetic abnormalities;Molecular cytogenetic analyses;Saudi Arabia;Unbalanced translocation of chromosomes
Earnhart, Cari L.
Afzal, Muhammed N.
College of Medicine
Alfaisal University (Saudi Arabia)
1785395630; 10101168
مطالعه متن کتاب p
[Thesis]
276903
a
Y
