Study of C677T and A1298C polymorphisms of the MTHFR gene and X chromosome abnormalities in Egyptian girls with Turner syndrome / (Record no. 58532)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 03187cam a2200337 a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | EG-GiCUC |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250223031611.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 161110s2016 ua dh 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 | Cai01.08.01.M.Sc.2016.Ra.S |
| 100 0# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Randa Salah Lotfy Abdelrahman |
| 245 10 - TITLE STATEMENT | |
| Title | Study of C677T and A1298C polymorphisms of the MTHFR gene and X chromosome abnormalities in Egyptian girls with Turner syndrome / |
| Statement of responsibility, etc. | Randa Salah Lotfy Abdelrahman ; Supervised Manal Fouad Ismail , Waheba Ahmed Zarouk |
| 246 15 - VARYING FORM OF TITLE | |
| Title proper/short title | لجين الميثيلين تيتراهيدروفولات ريداكتيذ والخلل في الكروموسوم (إكس) في الفتيات المصريات ذوي متلازمة تيرنر (ِA1298C,C677T) دراسة دور التعدد الشكلي |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | Cairo : |
| Name of publisher, distributor, etc. | Randa Salah Lotfy Abdelrahman , |
| Date of publication, distribution, etc. | 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 128 P. : |
| Other physical details | charts , facsimiles ; |
| Dimensions | 25cm |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Thesis (M.Sc.) - Cairo University - Faculty of Pharmacy - Department of Biochemistry |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Background: Folate metabolism dysfunctions can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) encoding gene (C677T and A1298C) reduce MTHFR activity, but when associated with aneuploidy, the results are conflicting. Turner syndrome (TS) is an interesting model for investigating the association between MTHFR gene polymorphisms and non disjunction because of the high frequency of chromosomal mosaicism in this syndrome. Aim: To investigate the association of MTHFR gene C677T and A1298C polymorphisms in TS girls and their mothers. To correlate these polymorphisms with maternal risk of TS offspring. Subjects and Methods: MTHFR C677T and A1298C polymorphisms were genotyped in 33 TS girls, their mothers and 15 healthy females with their mothers as controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequencing technique. Results: Genotype and allele frequencies of both C677T and A1298C were not significantly different between TS cases and controls. There were no significant differences in C677T genotype distribution between the TS mothers and controls (p=1). The MTHFR 1298AA and 1298AC genotypes were significantly increased in TS mothers Vs. control mothers (p=0.002). The C allele frequency of the A1298C polymorphism was significantly different between the TS mothers and controls (p=0.02). The association of A1298C gene polymorphism in TS girls was found to be increased with increasing age of both mothers and fathers of TS cases (p=0.026, 0.044) respectively. Conclusion: Our findings suggested a strong association between maternal MTHFR A1298C and risk of TS in Egypt |
| 530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE | |
| Additional physical form available note | Issued also as CD |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Folate |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | MTHFR gene |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Turner syndrome |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Manal Fouad Ismail , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Waheba Ahmed Zarouk , |
| 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 | Samah |
| 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 | Cai01.08.01.M.Sc.2016.Ra.S | 01010110070018000 | 22.09.2023 | Thesis | ||
| Dewey Decimal Classification | المكتبة المركزبة الجديدة - جامعة القاهرة | مخـــزن الرســائل الجـــامعية - البدروم | 11.02.2024 | Cai01.08.01.M.Sc.2016.Ra.S | 01020110070018000 | 22.09.2023 | CD - Rom | 70018.CD |