The MTHFR A1298C, MTR A2756G, and MTRR
A66G genes all showed homozygous mutants with the exception of MTHFR C677T.
All controls were in HWE at the rs4646903 T>C ([chi-square] = 3.1, P = 0.08), rs1048943 A>G ([chi-square] = 0.39, P = 0.5), rs1042522 Pro>Arg ([chi-square] = 3.0, P = 0.08), and MTHFR rs1801133 C>T ([chi-square] = 0.72, P = 0.4), and MTRR
rs1801394 A>G loci ([chi-square] = 1.8, P = 0.18).
In a transgenic mice model experiment , it revealed that the mothers with a MTRR
deficiency had an association with fetal VSD phenotype in mice.
 Human genes: MTHFR, methylenetetrahydrofolate reductase (NAD(P)H); MTR, 5-methyltetrahydrofolate-homocysteine methyltransferase; MTRR
, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase; MMADHC, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase.
DNA sequencing analysis of the 23S rRNA gene revealed the C2611T, a resistance-associated mutation, and analysis of the mtrR
gene revealed the G115A mutation and G131A, a novel mutation (Table).
Research objective was to understand development mechanisms of non-developing I trimester pregnancy on the basis of studying frequency of polymorphic alleles in folate metabolism genes MTHFR C677T, MTHFR A1298C, MTRR
A66G, MTR A2756G, homocysteine level, platelet and plasma haemostasis sections.
Gerec ve yontem: Bu amacla 66 azospermi ve 51 oligozoospermi olmak uzere toplam 117 infertilite olgusu ile 70 saglikli bireyin kan ornekleri toplanarak MTR A2756G ve MTRR
A66G genotiplendirmeleri yapilmistir.
Seven functional polymorphisms and six genes in the folate homocysteine pathway were considered: 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C > T, MTHFR 1298A > C, cystathionine [beta] synthase (CBS) 844ins68, methionine synthase (MTR) 2756A > G, methionine synthase reductase (MTRR
) 66A > G, thymidylate synthase (TYMS) 1494del6, and dihydrofolate reductase (DHFR) c.86 + 60_78 in 163 SLE patients and 160 controls.
UTAXINC 535.695 1665.490 AGIC 9956.840 7609.480 WAGAGI 0.587 0.499 INTDAGI 0.117 0.769 NUMSOURC 3.072 1.358 MTRR
0.149 0.082 MTRC 0.154 0.080 FARM 0.180 0.384 SOLEPROP 0.270 0.444 TAXADVIS 0.730 0.443 MARJOINT 0.799 0.400 NOSCHD 0.775 0.417 NOSCHE 0.817 0.387 UWID 19.170 438.822 UNONWID 512.551 1834.040 WIDIC 7314.680 7703.480 NONWIDC 2738.040 5156.880 Data
Association with MTHFR C677Tand A1298C and MTRR
A66G polymorphisms in healthy children.
The methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR
) genes are two of the most important candidate genes for fetal CHD.