عنوان

Detection of rare unbalanced translocation (X; 7)(q13.3; p12.1) breakpoints using single nucleotide polymorphism microarrays

Number

TL48727

.Language of Text, Soundtrack etc

انگلیسی

Title Proper

Detection of rare unbalanced translocation (X; 7)(q13.3; p12.1) breakpoints using single nucleotide polymorphism microarrays

General Material Designation

[Thesis]

First Statement of Responsibility

Lama Suleman Almohlesy

Subsequent Statement of Responsibility

Afzal, Muhammed N.

Name of Publisher, Distributor, etc.

Alfaisal University (Saudi Arabia)

Date of Publication, Distribution, etc.

2015

Specific Material Designation and Extent of Item

44

Text of Note

Committee members: De Meersman, Ronald E.; Kaya, Namik; Khraibi, Ali A.

Text of Note

Place of publication: United States, Ann Arbor; ISBN=978-1-339-64993-1

Dissertation or thesis details and type of degree

M.S.

Discipline of degree

College of Medicine

Body granting the degree

Alfaisal University (Saudi Arabia)

Text preceding or following the note

2015

Text of Note

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

Subject Term

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.

Subdivision

College of Medicine

Alfaisal University (Saudi Arabia)

Call Number

1785395630; 10101168

Electronic name

p

[Thesis]

276903

a

Y