A PEDIGREE OF Y-LINKED RETINITIS PIGMENTOSA INVESTIGATION REPORT OF A FAMILY

来源 :Chinese Medical Journal | 被引量 : 0次 | 上传用户:zhaodhsnd
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Retinitis pigmentosa is a common ophthalmological monogenic-inheritance disease. It has been confirmed that the patterns of its inheritance are autosomal recessive, autosomal dominant and x-linked recessive inheritance. In May 1987, we found a family of 4 generations with altogether 21 family members. Among them, all the 8 males were retinitis pigmentosa patients, while none of the females showed any symptom of this disease and even their male offsprings were normal. Six years later, we made another follow-up investigation on this family and it was further confirmed that the mode of inheritance of the disease in this family was holandric. It has been confirmed that the patterns of its inheritance are autosomal recessive, autosomal dominant and x-linked recessive inheritance. In May 1987, we found a family of 4 generations with altogether 21 family members . Among them, all the 8 males were retinitis pigmentosa patients, while none of the females showed any symptom of this disease and even their male offsprings were normal. Six years later, we made another follow-up investigation on this family and it was further confirmed that the mode of inheritance of the disease in this family was holandric.
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