Retinitis Pigmentosa is kind of a human genetic disorder, but it is very rare. In about 4,000 people, there will be 1 person will have this disease. Because Retinitis Pigmentosa is a very long word, so people usually call it by its abbreviation ‘RP’. Even though RP is a rare disease, it is very harmful. It can lead a person to blindness. By studying Retinitis Pigmentosa for 20 years, Eric A. Pierce, a ophthalmologist, found out that what part of the chromosome goes wrong will cause the RP happened. In the experiment, he first looks for the mice that have the RP, and take out their genes to compare to the candidate genes from human. Then, they matched them and used the conventional molecular genetic technique to find out that the RP1 gene on
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If a person was inherited by autosomal dominant trait, his parents or family members might be affect by RP. Most of the Retinitis Pigmentosa patients are caused by autosomal recessive trait, which mean that in each cell, the 2 recessive genes got the mutation. Usually this kind of patient’s parents will show no signs of the condition because they are only the carrier of the RP. Also, RP can be inherited from the X-linked recessive trait. X-linked recessive pattern appears on the X chromosome, and X chromosome is one of the sex cells. In this case, a male will be easier get this genetic disorder than a female, because a male only has 1 X chromosome. If that X chromosome sufficient to cause this condition, then he might get the disease because the Y chromosome can’t do anything for it. But if it is a female, she will have 2 X chromosome in a sex cell. If only one X goes wrong, the other X chromosome will protect it from getting the RP, and this female will become a RP carrier. However, if a female’s two X chromosome go wrong together, then the symptoms of RP will appear on her. The percentage of the patients that inherited Retinitis Pigmentosa from autosomal dominant pattern are about 30%, inherited from autosomal recessive pattern are about 60%, and from the X-linked pattern are about
If a person was inherited by autosomal dominant trait, his parents or family members might be affect by RP. Most of the Retinitis Pigmentosa patients are caused by autosomal recessive trait, which mean that in each cell, the 2 recessive genes got the mutation. Usually this kind of patient’s parents will show no signs of the condition because they are only the carrier of the RP. Also, RP can be inherited from the X-linked recessive trait. X-linked recessive pattern appears on the X chromosome, and X chromosome is one of the sex cells. In this case, a male will be easier get this genetic disorder than a female, because a male only has 1 X chromosome. If that X chromosome sufficient to cause this condition, then he might get the disease because the Y chromosome can’t do anything for it. But if it is a female, she will have 2 X chromosome in a sex cell. If only one X goes wrong, the other X chromosome will protect it from getting the RP, and this female will become a RP carrier. However, if a female’s two X chromosome go wrong together, then the symptoms of RP will appear on her. The percentage of the patients that inherited Retinitis Pigmentosa from autosomal dominant pattern are about 30%, inherited from autosomal recessive pattern are about 60%, and from the X-linked pattern are about