Sunday, November 9, 2014

Trying to analyze HLA-B27 and PGD

What is HLA-B27? Oooh there are many subtypes of HLA-b alleles.
HLA-B*2704 , B*2705, B*2709 etc... Scandinavian countries has high incidence of uveitis. Equatorial counties has fever incidence. Wait, does this have something to do with the sun? Vit D deficiency?

Nicholas J. Sheehan,  Rheumatology 2010;49:621–631. Http://rheumatology.oxfordjournals.org

In Taiwan Chinese, susceptibility to AS is determined by homozygosity for HLA-B*2704, whereas B*2705 may confer protection [23]. 

It has been suggested that B*2709 arose in the Mediterranean region by a single mutation from B*2705 on a haplotype associated with low susceptibility for AS and that it is the haplotype that is more important for disease predisposition than the immunobiological differences between B*2705 and B*2709 [19].


In contrast with an early report [40], a recent Finnish study showed that HLA-B27 homozygosity is associated with a moderately increased risk of AS compared with B27 heterozygosity [41]. 

AS develops at an earlier age in patients who are HLA-B27than in those who are HLA-B27(negative)[42, 43]. In a Chinese population, the earliest age of onset of AS is associated with the HLA-B*2715 subtype [43].


Wait ya... The alleles are getting more diverse. Not all ankylosing spondylitis patients are HLA-B27 positive. I saw another article citing ankylosing sponylitis HLA-B27 negative father and son. HLA-B27 being the most popular, other genes may also be the culprit. My genetic study might be a waste of resources. 

Genetics, to me, is getting complicated. Homozygous- means two genes are affected. While, heterozygous mean only one gene is affected. This reminds me of the Mendelian matrix again. Father x mother. During the fertilization, what is the chance that the embryo will get two HLA-B27 alleles from me? Am I homozygous or heterozygous HLA-B27 positive? What is the PGD standard operationg procedure? Discard all embryo with HLA-B27, even if that is heterozygous? 
Do I still need a geneticist consultation? This reminds me of my immunologist remarks: I am playing god. I said I am just embracing what technology has to offer. Ooops, few month ago, I wish to have PGD because my husband has genetic translocation. After the retest was done, it says normal chromosome. ai... PGD or not? Pray and trust God! 

Actually, I dont want to make my decision. I dont want to be guilty in the future. I have to opportunity to have PGD done and but I turned it down. What if, It so happen that my child does not have ankylosing spondylitis but he has Down syndrome? Advanced age moms are at high risk of bearing aneuploidy offspring.



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