Molecular characterization of six Chinese families with m.3460G > A and Leber hereditary optic neuropathy

The primary mutation m.3460G > A occurs with a very low frequency (similar to 1%) in Chinese patients with Leber hereditary optic neuropathy (LHON). Up to now, there is no comprehensive study of Chinese patients harboring this mutation. We characterized six unrelated probands with m.3460G > A in this study, which were identified from 1,626 patients with LHON or suspected with LHON. The overall penetrance of LHON (25.6% [10/39]) in four pedigrees with m.3460G > A was substantially lower than those families with m.11778G > A (33.3% [619/1859]) as reported in our previous study. Intriguingly, family Le688 with a heteroplasmic m.3460G > A presented a lower penetrance (12.5%) than the other three families with a homoplasmic mutation. There is an elevated gender bias (affected male to affected female = 4:1) in the four families with m.3460G > A compared to those LHON families with m.11778G > A (2.4:1). Complete mtDNA sequencing indicated that the six matrilines belonged to haplogroups B4d1, F2, A5b, M12a, D4b2b, and D4b2, respectively. We did not identify any potential secondary mutation(s) that will affect or be associated with the penetrance of LHON in the six probands by using an evolutionary analysis and protein secondary-structure prediction. Taken together, our results suggested that the m.3460G > A mutation occurred multiple times in Chinese LHON patients. The heteroplasmic status of mutation m.3460G > A might influence the penetrance of LHON in family Le688.

Molecular phylogeny of five species of Dremomys (Rodentia : Sciuridae), inferred from cytochrome b gene sequences

Analyses of the mitochondrial cytochrome b gene (1140 bp) showed that Dremomys lokriah, D. pernyi, D. pyrrhomerus, D. rufigenis and D. gularis all are separate species. Dremomys pyrrhomerus showed 8.5% sequence variation from D. rufigenis, and the level o

Expression of VEGFR-2 on HaCaT cells is regulated by VEGF and plays an active role in mediating VEGF induced effects

Vascular endothelial growth factor (VEGF) and its receptor VEGFR-2 play important roles in mitogenesis and chemotaxis of endothelial cells. In normal human skin, VEGF is expressed and secreted by epidermal keratinocytes. Emerging data suggest that keratin

云南蝶类调查及其地理分布

在云南及邻近地区野外考察中,获蝴蝶标本12000余号,初步鉴定有432种,隶属于11科、188属。并对云南蝶类区系及地理分布作了初步分析。参14

尼罗罗非鱼染色体的C带、Ag带和减数分裂联会复合体的研究

以Sumner法和界面铺张-硝酸银技术观察, 表明尼罗罗非鱼的2n=44, 核型可分为3组,各具4对亚中着丝粒染色体、17对亚端着丝粒染色体和1对端着丝粒的特大染色体。结构异染色质主要分布于着丝粒附近, 其中Nos.6、8、15亚中着丝粒染色体短臂全部深染。带有银染核仁组织者(Ag-NORs)染色体的数目为2—6条, NORs均位于6、8、15亚中着丝粒染色体短臂。银染色可清楚显示联会复合体(SC)结构和减数分裂行为。SC组型与有丝分裂染色体的组型有较好的一致性 。图版2图2表2参13

The reproductive strategies of an endemic Tibetan fish, Gymnocypris selincuoensis

The reproductive traits of Gymnocypris selincuoensis from Selincuo Lake and its tributaries were investigated in 1997 and 1998. The youngest mature male was age 7 with a standard length (SL) of 172.0 mm, and the youngest mature female was age 8 with a SL of 194.0 mm. The L(50)s Of SL and age at first maturity were respectively 250.32 mm and age 9 for males and 224.71 mm and age 8 for females. The gonadosomatic index (GSI) significantly changed with seasons for mature individuals but not for immature individuals. GSIs of mature females at stages IV and V of ovary development increased with SL and reached a maximum value at the SL range from 370 mm to 390 mm; the GSIs of mature males were negatively correlated with SL. The breeding season lasted from early April to early August. Egg size did not significantly change with SL but increased with the delay of spawning. The individual absolute fecundity varied from 1,341 to 28,002 eggs (mean 12,607+/-7,349), and the individual relative fecundity varied from 6.4 to 42.0 eggs.g(-1) (mean 25.5+/-9.7). The individual fecundity increased with total body weight; it also increased with SL for those of SL less than 370 mm. There was a rest of spawning for mature individuals.

Modelling information requirements in complex engineering services

Services based around complex engineering equipment and systems provide substantial challenges in both the long-term management of the equipment and the need for guaranteed delivery of the related service. One of the challenges for an organisation providing these services is the management of the information that is required to design, deliver and subsequently assess the success of the service. To assist in this process this paper develops a model for capturing, organising and assessing information requirements for these Complex Engineering Services in which information required to support key decisions in the life cycle of the service is identified. The model – referred to as The 12-Box Model for Service Information Requirements – is embedded in a three-phase procedure for providing an assessment of information requirements of a service contract which also provides insight into the capabilities of available information systems in supporting the contract. An illustrative example examining service information in an aircraft availability contract is used to demonstrate the use of the 12-Box Model and associated assessment procedure.