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MEDICAL

GENETICS

Ankylosing Spondylitis HLA-8*27 Real Sex Determination (SRY and Y-chr.
Time hD-frt Kit analysis)

Product No: 1108-25hB Differences in the sexes are due to irregularities in the
X and Y chro mosomes. X-monosomy karyotype is seen
The genes encoding human leukocyte antigen (HLA) are in 50-60% of gonadal dys genesis cases. The remaining
highly poly morphic genes and are located in the Major 50-40% includes numerical and struc tural changes in the
Histocompatibility Com plex (MHC) on the short arm of X and Y chromosomes.
chromosome 6. These genes encode basically two classes
of celi surface glycoproteins. The frequency of alleles of The SRY gene plays an important role in both male sex
genes encoding these proteins varies from population development and testicular development. The abnormal
to population. The HLA-B27 allele is approximately 9% SRY gene can cause sex reassignment. Cytogenetic an-
common in Cau casians. The first clinical relationship alyzes may not always detect such irregularities in the Y
between HLA-B27 and Ancholys ing Spondylitis (AS) was chromosome. Numerical and structural irregular ities in
demonstrated in the 1980s. After this finding, the presence the Y chromosome are associated with Turner Syndrome,
of the HLA-B27 allele has been associated with many other Pseudohermaphroditism, Male Dysgenetic and Mixed
rheumatoid diseases such as Reiter’s Syndrome (RS) and Gonadal Dys genesıs.
Acute Anterior Uveitis (AAU). Recent studies have shown
its relationship with many other diseases such as heart
valve diseases, cardiac conduc tion diseases and immune
system diseases.

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