PubMed · 14065418
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T DENT, J H EDWARDS, J D DELHANTY. 1963-09-07. A PARTIAL MONGOL.. https://doi.org/10.1016/s0140-6736(63)90226-5
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We report here the characterization of a five-generation large Chinese family with Leber's hereditary optic neuropathy (LHON). Very strikingly, six affected individuals of 38 matrilineal relatives (17 females/21 males) are exclusively males in this Chinese family. These matrilineal relatives in this family exhibited late-onset/progressive visual impairment with a wide range of severity, ranging from blindness to normal vision. The age of onset in visual impairment varies from 17 to 30 years. Sequence analysis of the complete mitochondrial genome in this pedigree revealed the presence of the G11778A mutation in ND4 gene and 29 other variants. This mitochondrial genome belongs to the Southern Chinese haplogroup B5b. We showed that the G11778A mutation is present at near homoplasmy in matrilineal relatives of this Chinese family but not in 164 Chinese controls. Incomplete penetrance of LHON in this family indicates the involvement of modulatory factors in the phenotypic expression of visual dysfunction associated with the G11778A mutation. However, none of other mtDNA variants are evolutionarily conserved and implicated to have significantly functional consequence. Thus, nuclear modifier gene(s) or environmental factor(s) seem to account for the penetrance and phenotypic variability of LHON in this Chinese family carrying the G11778A mutation.
OBJECTIVE: To investigate the association of lipoprotein lipase gene intron 8 polymorphisms and Essential Hypertension in Han race Chinese. METHODS AND RESULTS: 116 patients with Essential Hypertension were enrolled and another 116 normal people were served as controls. All cases were examined for the genotypes of intron 8 in lipoprotein lipase gene by the methods of polymerase chain reaction restriction fragment length polymorphism, and the serum lipoprotein levels were also observed. Results showed that body mass index blood pressure and the serum triglyceride level were obviously increased in the Essential Hypertension group. The genotype and allele frequency of intron 8 in lipoprotein lipase in the Essential Hypertension group showed obvious differences compared with the control group. Serum triglyceride levels were higher in the patients with H+H+ genotype than in those in non H+H+ genotype of intron 8 in lipoprotein lipase by HindIII digestion. The systolic blood pressure showed a decreasing tendency among the H+H+ genotype, the H+H- genotype and the H-H- genotype individuals. CONCLUSION: The results suggest that lipoprotein lipase may be an important genetic factor associated with the Chinese Han race Essential Hypertension patients. The polymorphisms of intron 8 in lipoprotein lipase influence the blood-lipid metabolism, induce blood vessel rebuilding and play an important role in the invasion and development of Essential Hypertension.
AIM: To evaluate the expression pattern of two novel oncofetal antigens, the HoxD9 and Pbx1 homeoproteins in esophageal squamous cell carcinomas (ESCCs) to determine what role they would play in the carcinogenesis of ESCC. METHODS: We obtained tissue samples of ESCC from 56 patients who underwent esophagectomy but not preoperative chemotherapy or radiotherapy. The diagnosis of ESCC was established and confirmed by staff pathologists. We used a highly sensitive, indirect, immunocytochemical method to detect HoxD9 and PbX1 proteins. We qualitatively and quantitatively evaluated cells that exhibited and staining using a light microscope. RESULTS: In all observed carcinoma tissue samples, more than 60% of neoplastic cells stained lightly or strongly for HoxD9, and more than 50% of neoplastic cells stained lightly or strongly for Pbx1. CONCLUSION: Our data suggest that HoxD9 and Pbx1 are inappropriately expressed in most human esophageal squamous cell carcinoma. Understanding the role of Hox genes in esophageal epithelial cell carcinogenesis may not only augment early detection but also offer new avenues for treatment of this disease.