The Relationship Between Methylation Defects and Different Genetic Disorders: Two Case Reports

BEKSAÇ, M. Sinan; Aydın, Emine; CEYLAN, Ahmet Cevdet

The Relationship Between Methylation Defects and Different Genetic Disorders: Two Case Reports

Emine AYDIN, (Hacettepe Üniversitesi, Tıp Fakültesi, Kadın Hastalıkları ve Doğum Anabilim Dalı, Ankara, Türkiye)

Ahmet Cevdet CEYLAN, (Hacettepe Üniversitesi, Tıp Fakültesi, Kadın Hastalıkları ve Doğum Anabilim Dalı, Ankara, Türkiye)

M. Sinan BEKSAÇ (Hacettepe Üniversitesi, Tıp Fakültesi, Kadın Hastalıkları ve Doğum Anabilim Dalı, Ankara, Türkiye)

GORM:Gynecology Obstetrics & Reproductive Medicine

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Yıl: 2016 Cilt: 22 Sayı: 2 Sayfa Aralığı: 110 - 112 Metin Dili: İngilizce İndeks Tarihi: 29-07-2022

The Relationship Between Methylation Defects and Different Genetic Disorders: Two Case Reports

Öz:

5,10-methylenetetrahydrofolate reductase (MTHFR) is an important enzyme taking role in methioninehomocysteine and folate metabolisms. This pathway has been associated with gene specific DNA hypoand hypermethylation which results in gene switching on or off.MTHFR C677T and A1298C gene polymorphisms are associated with folate metabolism disorders, thatresults in impaired DNA methylation and chromosomal abnormalities, gene deficiencies and structuralanomalies. Here, we report two cases of compound heterozygote and homozygote MTHFR gene mutations associated with genetical disorders during their pregnancies.

Anahtar Kelime:

Konular: Kadın Hastalıkları ve Doğum

Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık

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APA	Aydın E, CEYLAN A, BEKSAÇ M (2016). The Relationship Between Methylation Defects and Different Genetic Disorders: Two Case Reports. , 110 - 112.
Chicago	Aydın Emine,CEYLAN Ahmet Cevdet,BEKSAÇ M. Sinan The Relationship Between Methylation Defects and Different Genetic Disorders: Two Case Reports. (2016): 110 - 112.
MLA	Aydın Emine,CEYLAN Ahmet Cevdet,BEKSAÇ M. Sinan The Relationship Between Methylation Defects and Different Genetic Disorders: Two Case Reports. , 2016, ss.110 - 112.
AMA	Aydın E,CEYLAN A,BEKSAÇ M The Relationship Between Methylation Defects and Different Genetic Disorders: Two Case Reports. . 2016; 110 - 112.
Vancouver	Aydın E,CEYLAN A,BEKSAÇ M The Relationship Between Methylation Defects and Different Genetic Disorders: Two Case Reports. . 2016; 110 - 112.
IEEE	Aydın E,CEYLAN A,BEKSAÇ M "The Relationship Between Methylation Defects and Different Genetic Disorders: Two Case Reports." , ss.110 - 112, 2016.
ISNAD	Aydın, Emine vd. "The Relationship Between Methylation Defects and Different Genetic Disorders: Two Case Reports". (2016), 110-112.

APA	Aydın E, CEYLAN A, BEKSAÇ M (2016). The Relationship Between Methylation Defects and Different Genetic Disorders: Two Case Reports. GORM:Gynecology Obstetrics & Reproductive Medicine, 22(2), 110 - 112.
Chicago	Aydın Emine,CEYLAN Ahmet Cevdet,BEKSAÇ M. Sinan The Relationship Between Methylation Defects and Different Genetic Disorders: Two Case Reports. GORM:Gynecology Obstetrics & Reproductive Medicine 22, no.2 (2016): 110 - 112.
MLA	Aydın Emine,CEYLAN Ahmet Cevdet,BEKSAÇ M. Sinan The Relationship Between Methylation Defects and Different Genetic Disorders: Two Case Reports. GORM:Gynecology Obstetrics & Reproductive Medicine, vol.22, no.2, 2016, ss.110 - 112.
AMA	Aydın E,CEYLAN A,BEKSAÇ M The Relationship Between Methylation Defects and Different Genetic Disorders: Two Case Reports. GORM:Gynecology Obstetrics & Reproductive Medicine. 2016; 22(2): 110 - 112.
Vancouver	Aydın E,CEYLAN A,BEKSAÇ M The Relationship Between Methylation Defects and Different Genetic Disorders: Two Case Reports. GORM:Gynecology Obstetrics & Reproductive Medicine. 2016; 22(2): 110 - 112.
IEEE	Aydın E,CEYLAN A,BEKSAÇ M "The Relationship Between Methylation Defects and Different Genetic Disorders: Two Case Reports." GORM:Gynecology Obstetrics & Reproductive Medicine, 22, ss.110 - 112, 2016.
ISNAD	Aydın, Emine vd. "The Relationship Between Methylation Defects and Different Genetic Disorders: Two Case Reports". GORM:Gynecology Obstetrics & Reproductive Medicine 22/2 (2016), 110-112.