The present study examined 58 members of a Kallmann syndrome family and investigated whether there are fibroblast growth factor receptor 1 （FGFR1） gene mutations in this family. Genomic DNA from the proband and fami...The present study examined 58 members of a Kallmann syndrome family and investigated whether there are fibroblast growth factor receptor 1 （FGFR1） gene mutations in this family. Genomic DNA from the proband and family members was subjected to PCR to amplify 18 exons of FGFR1, and the amplified products were sequenced to identify potential mutations. MRI of the olfactory bulb region was performed on suspected subjects. The patient and his father were diagnosed with Kallmann syndrome. A polymorphic site was found at 39542, with the proband and his parents being heterozygous （guanine ＋ cytosine）. However, healthy controls and the other members of this family were homozygous for guanine at this position.展开更多
Eight hundred and ten pedigree members of 110 patients with Graves' disease were studied. In 700 first-egree relatives, inquiry of medical history, physical examination (including eyes, thyroid, heart rate, etc), ...Eight hundred and ten pedigree members of 110 patients with Graves' disease were studied. In 700 first-egree relatives, inquiry of medical history, physical examination (including eyes, thyroid, heart rate, etc), thyroid function tests (serum T3, T4 and TSH levels), determinations of thyroglobulin antibodies (TgAb) and thyroid microsomal antibodies (TmAb) were performed. For male (female) probands, the incidence of Graves' disease in male (female) first-degree relatives were investigated and their serum TgAb and TmAb were analysed. The incidence of these two kinds of autoantibodies in the male (female) first-egree relatives of familial and nonfamilial Graves' disease were analysed. Eighteen persons with positive TgAb and TmAb from 5 pedigrees had been followed up one year after initial determinations. Our results suggest that the positive rates of TgAb and TmAb in the first-egree relatives of Graves' disease were coincident with the incidence of Graves' disease, and the positive results of TgAb and TmAb in the first-egree relatives of Graves' disease may be an indicator of pre-raves' disease or pre-utoimmune thyroid diseases.展开更多
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 inheritanc...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.展开更多
基金the Natural Science Foundation of Hunan Province, No.2010JJ5045
文摘The present study examined 58 members of a Kallmann syndrome family and investigated whether there are fibroblast growth factor receptor 1 （FGFR1） gene mutations in this family. Genomic DNA from the proband and family members was subjected to PCR to amplify 18 exons of FGFR1, and the amplified products were sequenced to identify potential mutations. MRI of the olfactory bulb region was performed on suspected subjects. The patient and his father were diagnosed with Kallmann syndrome. A polymorphic site was found at 39542, with the proband and his parents being heterozygous （guanine ＋ cytosine）. However, healthy controls and the other members of this family were homozygous for guanine at this position.
文摘Eight hundred and ten pedigree members of 110 patients with Graves' disease were studied. In 700 first-egree relatives, inquiry of medical history, physical examination (including eyes, thyroid, heart rate, etc), thyroid function tests (serum T3, T4 and TSH levels), determinations of thyroglobulin antibodies (TgAb) and thyroid microsomal antibodies (TmAb) were performed. For male (female) probands, the incidence of Graves' disease in male (female) first-degree relatives were investigated and their serum TgAb and TmAb were analysed. The incidence of these two kinds of autoantibodies in the male (female) first-egree relatives of familial and nonfamilial Graves' disease were analysed. Eighteen persons with positive TgAb and TmAb from 5 pedigrees had been followed up one year after initial determinations. Our results suggest that the positive rates of TgAb and TmAb in the first-egree relatives of Graves' disease were coincident with the incidence of Graves' disease, and the positive results of TgAb and TmAb in the first-egree relatives of Graves' disease may be an indicator of pre-raves' disease or pre-utoimmune thyroid diseases.
文摘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.
