1995中华医学杂志:英文版Requires access

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

赵国镛, 夏洪喜, 夏元成

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Abstract

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.

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What this paper is about

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.

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Available abstract

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.

Key concepts: Retinitis pigmentosa, Inheritance (genetic algorithm), X-linked recessive inheritance, Autosomal recessive inheritance, Genetics, Disease, Biology, Medicine

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