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Pen Hua Su,Jia Yuh Chen,Ju Shan Yu,Suh Jen Chen,Teng Fu Tsao,Shih Jei Tsai 한국유전학회 2008 Genes & Genomics Vol.30 No.4
Cleidocranial dysplasia (CCD, #119600) is a rare, autosomal dominant bone disease characterized by hypoplastic or aplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other skeletal disorders. This disease gene has been mapped to chromosome 6p21 within a region containing CBFA1, a member of the runt family of transcription factors (RUNX2). We report one Taiwanese girl with CCD, with multiple wormian bones, persistent synchondrosis, supernumerary teeth, hypoplasia of clavicles, delayed ossification of pubic bone, and short stature. She also has partial fusion of the left 4th and 5th ribs, and posterior cerebral artery malformation. We performed sequence analysis of the RUNX2 gene, and detected a heterozygous C to G transition mutation at nucleotide 1115 in exon 7, leading to P372R mutation. This is an unreported missense mutation in exon 7 which effected the trausactivation domain of RUNX2.
RESIDUALS IN MINIMAL RESOLUTION IV DESIGNS
Pen-Hwang Liau 한국통계학회 2003 Journal of the Korean Statistical Society Vol.32 No.3
In unreplicated factorial or fractional factorial experiments, the presencethe normal plot oft residuals to identify outliers in factorial or fractionalfactorial is an easy method to nd these dubious points. In some cases, thet residuals form the identical pairs. One can not ell from the plot whichIV, which ts the model containing all main eects and some two-factorinteractions, whether it is orthogonal or not. In these kinds of models, whenwe drop one point or two points (not foldover pair) from the fraction, thephenomenon of identical pairs oftthe theoretical background of the phenomenon and its sequences will beinvestigated in detail.AMS 2000 subject classications.Primary 62B15; Secondary 62K15.Keywords.Residual, resolution, minimal design, foldover, normal plot.1. Introductionone can hardly be certain whether the model is appropriate or not before checkingsome basic assumptions. Residuals act an important role in the linear model. Oneusually uses residuals for detecting normal asumption, homogeneous variance,etc. For the linear model, the random errorsεi are generally assumed to be independent normal variables with mean 0 andconstant varianceσ2. Unfortunately, the residualsei not have common variance. In performing the data nalysis, the residuals andthe scaled versions of the residuals have ben used extensively to study validityof the linear model and its assumptions.Received December 2002; accepted April 2003.
Pen Hua Su,Jia Yuh Chen,Suh Jen Chen 한국유전학회 2008 Genes & Genomics Vol.30 No.1
We report on a 10-year-old boy with severe psychomotor retardation and craniofacial anomalies. Using high resolution GTG banding, SKY FISH, and CGH analysis, he was found to be carrying a del(7)(q34) inherited from a paternal balanced translocation t(6;7)(qter;q34). Reported deletions of the terminal part of the 7q chromosome have not been associated with a clearly distinctive and recognizable phenotype. Frequent findings included: pre/postnatal growth and developmental retardation, microcephaly, eye anomalies, flat/broad nasal bridge with bulbous nasal tip, genital abnormalities and brain defects. In addition to the typical abnormalities, this case further provides evidence for a pituitary dwarfism. The patient was beneficially treated with human growth hormone.
Pen, B.,Iwama, T.,Ooi, M.,Saitoh, T.,Kida, K.,Iketaki, T.,Takahashi, J.,Hidari, H. Asian Australasian Association of Animal Productio 2006 Animal Bioscience Vol.19 No.9
The effect of substituting potato by-products based silage (PBS) for concentrates on ruminal fermentation, methane production and nitrogen utilization in Holstein steers was evaluated. Three growing Holstein steers ($490{\pm}19kg$, initial body weight) were used in a $3{\times}3$ Latin square experiment with three experimental diets in which PBS was included at (1) 0, (2) 19 and (3) 27%, on a dry matter basis, replacing concentrates and wheat bran. Increasing replacement levels of PBS slightly increased dry matter (DM), organic matter (OM), NDF and ADF intakes by the steers (p<0.05). Inclusion of PBS at 19% increased crude protein (CP) digestibility of the experimental diets compared with the control (p<0.05). Substitution with PBS increased ADF digestibility and nitrogen retention (p<0.05), but did not affect energy retention. Energy loss as methane ranged between 5.0 and 6.1% of the total gross energy intake. There were no significant differences in carbon dioxide and methane production among all PBS levels, while daily methane production numerically increased with PBS inclusion. Substituting PBS for concentrates did not significantly affect ruminal pH and ammonia N concentration. Total VFA concentration, VFA molar proportions and blood metabolites were also unaffected by PBS replacement. These results suggest that substitution of PBS up to 27% of diet dry matter did not significantly increase methane production and was equal or superior to concentrates in ADF digestibility and nitrogen retention for growing steers.
A Note on Constructing and Designs When Linear Terms are Essential
Pen-Hwang Liau 한국통계학회 2005 Journal of the Korean Statistical Society Vol.34 No.2
Under the assumption that the three-level factors are quantitative, the linear effects are taken more attention than the quadratic effects of the interaction terms. Webb (1971) presented some small incomplete factorial designs that are mixed two- and three-level designs with 20 or fewer runs. The designs provided the estimating linear-by-linear components of interactions between the three-level factors; moreover, they could also offer estimation of interactions that interest the experiments. Webb used ad hoc methods to find these plans; hence, there was still no unified structure to those experiments. In this paper, we develop the methods to construct the 2n31 and 2133 designs. The designs constructed by these methods not only supply orthogonal estimates of all the main effects but also permit estimation of all the two-factor interactions not involving the quadratic effects. Furthermore, the designs we find are nearly orthogonal.
Pen Hua Su,Ju Shan Yu,Suh Jen Chen,Jia Yuh Chen 한국유전학회 2008 Genes & Genomics Vol.30 No.3
Cornelia de Lange syndrome (CdLS) is a multisystem congenital anomaly disorder characterized by distinctive facial dysmorphism, including low anterior hairline, synophrys, anteverted nares, maxillary prognathism, long philtrum, and carp mouth; prenatal and postnatal growth retardation; mental retardation; limb anomalies; and multiple organ defects. The disease is caused by mutations in the NIPBL gene located at 5p13.1. To date, a variety of NIPBL mutations have been identified and shown to be associated with CdLS symptoms. Here, three Taiwanese subjects exhibiting multiple features of CdLS were analyzed in this study. One of the subjects characterized by classic CdLS symptoms had a novel frameshift mutation (C.3196delT) in exon11 of the NIPBL gene complex followed by a premature termination codon four amino acids downstream, whereas the two other subjects characterized by less pronounced CdLS symptoms had no detectable mutations in that part of thethe NIPBL gene complex that was analyzed herein. However, the former two subjects had a novel and unreported polymorphism in exon 33 that was also detected in the corresponding allele of 77 of 200 healthy Taiwanese control subjects. In conclusion, we report a novel NIPBL mutation likely associated with CdLS and one new polymorphism that is likely not related to CdLS. These observations suggest that truncating mutations were generally associated with a more severe phenotype. Additional studies using an expanded population of CdLS patients are being performed to enhance our understanding of the role of NIPBL in CdLS pathogenesis.
Pen Hua Su,Jia Yuh Chen,Ju Shan Yu,Suh Jen Chen,Jui Ming Hu,Jia Min Yang 한국유전학회 2007 Genes & Genomics Vol.29 No.3
X-linked chondrodysplasia punctata (CDPX 1) is a congenital disorder characterized by abnormalities in cartilage and bone development. Here, we examined a young, male subject diagnosed with chondrodysplasia punctata presented by typical radiologic findings of calcific stippling at the vertebrae as well as in the sacral area. CDPX 1 has long been thought to be a hereditary disease of generalized skeletal dysplasia. We discovered a de novo frame shift mutation in the arylsulphatase gene, ARSE, which generated an early stop codon. Remarkably, the mother of the newborn subject consumed Chinese herbs, cnidiir rhizome, during the entire pregnancy period. To the best of our knowledge, this is the first report of chondrodysplasia punctata that is correlated with mutations in exon 9 of the ARSE gene. Furthermore, we postulated that consuming specific herbs during prolonged periods while pregnant could be directly or indirectly related to the occurrence of mutation in the ARSE gene and may as a consequence lead to drug embryopathy.