The widespread custom of consanguineous marriages in South Asian countries puts the population at risk for autosomal recessive disorders
including retinitis pigmentosa.
She also wants the reader to know that the messes, like so many autosomal recessive disorders
, are at least partially fixable.
These genes include the human leukocyte antigen (HLA) genes of the hypervariable major histocompatability complex (MHC), which are genes important for pharmacogenomics such as CYP2D6, as well as genes thought to be involved in rare inherited autosomal recessive disorders
like familial Mediterranean fever and UpshawShalman syndrome.
Screening for fetal chromosomal anomalies such as Down syndrome has become a routine part of prenatal care, but it is possible only during pregnancy On the other hand, identifying pregnancies at risk for single-gene autosomal recessive disorders
, or "Mendelian" disorders, is possible as part of preconception care.
1) Asphyxiating thoracic dystrophy (Jeune Syndrome) Lawrence-Moon-Bardet Biedl Syndrome, Short rib polydactyly syndromes and Cerebro-Hepato-Renal Syndrome (Zellweger Syndrome) figure in the differentials, as all these are autosomal recessive disorders
associated with renal cysts.
In case of autosomal recessive disorders
, the risk of having an affected child is 25 %, wherein the partners are carriers for the same genetic disorder.
It is not surprising to diagnose this association, since both are autosomal recessive disorders
in our country where consanguineous marriages are frequent.
Autosomal recessive disorders
, in which two genes must mutate in a person to appear, form an overwhelming proportion of genetic disorders in Omani patients, according to the study.
Since most autosomal recessive disorders
are associated with a loss of function, carriers of the disorder--the parents in this scenario--do not have symptoms since the normal gene on one of the chromosomes is capable of producing enough of the protein.
In countries where there is high rate of consanguinity, there is significant burden of autosomal recessive disorders