[AlpacaTalk] More CA info, actual science here!
http://www.intl-
Plant & Animal Genomes XVII Conference
Investigation Of A Candidate Gene For Choanal Atresia In Alpaca.
Kent M. Reed1 , Kristelle M. Mendoza1 , Miranda M. Bauer1 , Anibal Armien2
1 Department of Veterinary and Biomedical Sciences, University of Minnesota, 295 Animal Science/Veterinary Medicine, 1988 Fitch Ave, St. Paul, MN 55108, USA
2 Department of Veterinary Population Medicine, University of Minnesota, 225 Veterinary Medical Center, 1365 Gortner Avenue, St. Paul, MN 55108, USA
Choanal atresia (CA) in camelids is a congenital disease resulting from abnormal development of the nasal passages which provide the airway connection between the nose and the mouth. In humans, an association in many cases occurs between CA and other anomalies (Coloboma, Heart malformation, choanal Atresia, Retardation of growth and / or development, Genital anomalies, and Ear anomalies). Presence of these malformations led to the acronym "CHARGE" now associated with the human syndrome. Similarly, cases of CA in alpacas are frequently associated with multiple other anomalies. Like CHARGE, CA in alpacas is a rare sporadic autosomal dominant condition with occasional familial presentation. Causative mutations for CHARGE have been identified within the chromodomain helicase DNA-binding protein 7 gene (CHD7) in approximately 66% of human cases. This study was designed to investigate CHD7 as a candidate gene for CA in camelids. Here we report on the complete 10 kb coding region of CHD7 in the alpaca and expression of this gene.
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This clearly says that it is an autosomal DOMINANT condition. This says that the gene is implicated in 66% of human cases. That 66% that carries the gene always shows symptoms. That's what dominant means. If the gene codes for it, it is expressed. No hidden carrier to pop up generations down the road. That leaves 44% unaccounted for, with no cause found. Or environmental, meaning anything external that happens to the animal, from meds, wormers, water, cleaning chemicals, possibly aflatoxin in feed? Viruses are well known to produce genetic mutations.
For two individuals with a secret database to say that all downline from "proven" carriers of a mutant gene should be culled is incredibly irresponsible, and probably actionable.
We should be concerned with all health issues and our alpacas. But for certain individuals to make a blanket statement based on personal opinion when the science isn't in, and what science we do have says that many cases of this syndrome are likely to be spontaneous in origin, is a disservice to the entire alpaca community.
To claim that grey eyes are the same as blue eyes is completely false. To claim that BEW is closely linked to CA because of one coincidental case, is highly irresponsible.
So I urge everyone to use reason and proceed calmly.
Heather
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