Dear Stevie (4)
I’m so sorry, Baby, that Mommy has these crappy issues that made you die. I acquired one copy of the mutations from every mum or dad (so both mother and father were heterozygous for a minimum of one MTHFR mutation to ensure that me to finish up compound heterozygous). Penelitian di luar negeri mengatakan bahwa sebagian besar orang-orang yang masuk penjara adalah orang-orang yang menderita Sindrom Jacobs, berperawakan tinggi, bersifat antisosial, agresif, suka melawan hokum.
Now, greater than 20 years later, scientists learning her and different Amish have discovered that the mutation that just about killed her could have a great aspect. A mutation of this type changes all the amino acids downstream and may be very prone to create a nonfunctional product since it might differ tremendously from the normal protein. All of the testing and treatment got here from my OB, Dr. Jorge Sotolongo with Metro OB/GYN.
Peristiwa yang terjadi pada mutasi gen adalah perubahan urutan-urutan DNA, dimana atom-atom hydrogen dapat berpindah dari satu posisi ke posisi lain pada purin atau pirimidin karena antara timin dan adenine atau antara guanine dan sitosin dihubungkan oleh ikatan hydrogen yang lemah. Using loss of life information and household histories, the team decided that the median lifespan for individuals with one copy of the mutation was 85 years—10 years longer than for other neighborhood members.
Essentially what this implies is I actually have one copy of the C677T gene mutation and one copy of the A1298C gene mutation, and it inhibits my physique’s ability to correctly metabolize folic acid, and can also be an inherited clotting disorder (depending on homocysteine ranges in my blood). The DHFR gene mutation is directly associated to not with the ability to break down folic acid into L- methylfolate. This genetic mutation has affected 4 generations of our household in a really unfavorable manner.
Those that are compound heterozygous and those that are homozygous for the mutation are really helpful to take almost four.5-5mg of Folic Acid/B vitamins (or 2 Folgard or Metanx) (12 instances the typical multi-vitamin and 6 times more than prenatals)! Among these are medical testing (diagnostic X-rays and different procedures), nuclear testing and power vegetation, and various other products (TV’s, smoke detectors, airport X-rays).