Association study between polymorphisms of dopamine transporter gene (SLC6A3), dopamine D1 receptor gene DRD1 and autism / (Record no. 63895)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02984cam a2200349 a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | EG-GiCUC |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250223031853.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 171209s2017 ua d f m 000 0 eng d |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | EG-GiCUC |
| Language of cataloging | eng |
| Transcribing agency | EG-GiCUC |
| 041 0# - LANGUAGE CODE | |
| Language code of text/sound track or separate title | eng |
| 049 ## - LOCAL HOLDINGS (OCLC) | |
| Holding library | Deposite |
| 097 ## - Thesis Degree | |
| Thesis Level | M.Sc |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) | |
| Classification number | Cai01.11.07.M.Sc.2017.Ra.A |
| 100 0# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Ranaih Masoud Azme Nasralla |
| 245 10 - TITLE STATEMENT | |
| Title | Association study between polymorphisms of dopamine transporter gene (SLC6A3), dopamine D1 receptor gene DRD1 and autism / |
| Statement of responsibility, etc. | Ranaih Masoud Azme Nasralla ; Supervised Dina Mohammad Rasheed Bahgat , Rasha Mohamad Hosny Shahin , Azza Abdelaziz Azzam |
| 246 15 - VARYING FORM OF TITLE | |
| Title proper/short title | و مرض التوحد SLC6A3 and DRD1 تحليل الرابطة بين التغير الجينى فى جين |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | Cairo : |
| Name of publisher, distributor, etc. | Ranaih Masoud Azme Nasralla , |
| Date of publication, distribution, etc. | 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 150 P. : |
| Other physical details | charts ; |
| Dimensions | 25cm |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Introduction: Autism is an etiologically and clinically heterogeneous group of disorders, collectively referred to as the 2autism spectrum disorders3 (ASDs). Dopamine modulates a broad variety of processes, functions and behaviors that are abnormal in individuals with ASDs. The dopamine transporter gene (SLC6A3) is a key regulator of dopamine (DA) homeostasis and neurotransmission. Dopamine D1 receptor is encoded by the DRD1 gene which is clearly a good candidate for affecting autism risk or modifying the classical symptoms of autism. Aim of work: The aim of this study was to analyze the association between SLC6A3gene rs2550936 Single-nucleotide polymorphism (SNP) and DRD1 gene rs4532 SNP and autism susceptibility and their association with various clinical and laboratory data of the patients. Subjects and methods: This study included 50 autistic patients (36 males and 14 females) and 50 age and sex matched healthy controls for comparison. All patients were subjected to history taking, physical examination, language assessment, IQ and childhood autism rating scale (CARS) as well as analysis of SLC6A3 gene rs2550936 SNP and DRD1 gene rs4532 SNP using PCR-RFLP, which were done for both patients and healthy controls. Results: There has been a statistically significant relationship between the mother age at the time of birth of the patients and different genotypes of SLC6A3 gene in autistic patients (p-value =0.030). DRD1 rs4532 A/G and A/A genotypes frequencies were significantly higher in autistic patients (52%) compared to the healthy controls 40% P-value =0.043 |
| 530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE | |
| Additional physical form available note | Issued also as CD |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Autism |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | DRD1 gene |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | SLC6A3 gene |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Azza Abdelaziz Azzam , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dina Mohammad Rasheed Bahgat , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rasha Mohamad Hosny Shahin , |
| Relator term | |
| 856 ## - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="http://172.23.153.220/th.pdf">http://172.23.153.220/th.pdf</a> |
| 905 ## - LOCAL DATA ELEMENT E, LDE (RLIN) | |
| Cataloger | Nazla |
| Reviser | Revisor |
| 905 ## - LOCAL DATA ELEMENT E, LDE (RLIN) | |
| Cataloger | Samia |
| Reviser | Cataloger |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Source of classification or shelving scheme | Dewey Decimal Classification |
| Koha item type | Thesis |
| Source of classification or shelving scheme | Not for loan | Home library | Current library | Date acquired | Full call number | Barcode | Date last seen | Koha item type | Copy number |
|---|---|---|---|---|---|---|---|---|---|
| Dewey Decimal Classification | المكتبة المركزبة الجديدة - جامعة القاهرة | قاعة الرسائل الجامعية - الدور الاول | 11.02.2024 | Cai01.11.07.M.Sc.2017.Ra.A | 01010110073673000 | 22.09.2023 | Thesis | ||
| Dewey Decimal Classification | المكتبة المركزبة الجديدة - جامعة القاهرة | مخـــزن الرســائل الجـــامعية - البدروم | 11.02.2024 | Cai01.11.07.M.Sc.2017.Ra.A | 01020110073673000 | 22.09.2023 | CD - Rom | 73673.CD |