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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.
Pen, B.,Oyabu, T.,Hidaka, S.,Hidari, H. Asian Australasian Association of Animal Productio 2005 Animal Bioscience Vol.18 No.4
Ten 18.5-month old Holstein steers were allocated into two diet groups of five and fed either concentrates as control group or potato by-products based silage (PBS) as experimental group for six months to investigate the effect of PBS on growth performance, carcass characteristics and fatty acid composition of carcass fats. The PBS diet consisted, in a DM basis, of 74.5% PBS, 16% hay, and 9.5% soybean milk residue (SMR). The control diet consisted, in a DM basis, of 82.5% concentrates and 17.5% hay. There were no significant differences in the overall average daily gain (ADG), dry matter intake (DMI), feed efficiency, yield score and meat quality score of dressed carcass between the two diet groups. There were no statistical differences in DM, crude protein (CP), and ether extract (EE) of beef and melting point of all adipose tissues from steers fed both diets. The PBS-fed steers tended to have lower Warner Bratzler shear (WBS) values than in the concentrate-fed steers (13.0 vs. 17.7 lb, p<0.1). At both sampling times 3 and 6 months of feeding period, PBS-fed steers had higher proportions of polyunsaturated fatty acids (PUFA), especially linoleic (C18:2) acids in subcutaneous fat than in control group (p<0.05). PBS-fed steers had significantly higher proportions of PUFA, especially C18:2 fatty acids than in concentrate-fed steers in carcass fats (p<0.05). In conclusion, feeding PBS to fattening steers has shown to have the same potential as concentrate feeding in terms of effect on the growth performance, feed efficiency, and carcass characteristics. Interestingly, PBS also seems preferable to concentrates because it increased the proportion of C18:2 fatty acid composition of carcass fats which is valuable for beef consumers.
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.
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.
De Novo Partial Trisomy 14 and Extra Marker Chromosome in a Newborn Male with The CHARGE Syndrome
Pen-Hua Su,Ming Chen,Jia-Yuh Chen,Suh-Jen Chen,Ju-Shan Yu,Yu-Jie Kai 한국유전학회 2007 Genes & Genomics Vol.29 No.1
The characteristic phenotype of partial trisomy 14 includes growth and developmental retardation, microcephaly, distinctive facies and anomalies of the hands and feet. In many cases, the presence of marker chromosomes complicates the phenotypic picture. We describe a ompatible with CHARGE syndrome. The patient presented with intrauterine growth retardation, coloboma, heart disease, choanae stenosis, cleft palate, corpus calosum genital anomalies, azygos anterior cerebral artery (ACA), single internal carotid artery (ICA) and ear anomalies. Cytogenetic analysis revealed trisomy 14pter→characterized by spectral karyotyping (SKY) and found to have been derived from chromosome 1. No pathogenic mutation was detected in the CHD7 gene. This case apears to be the first report of a patient having both trisomy 14 with marker chromosome 1 and the CHARGE syndrome, and it presents a unique opportunity to observe the overlaping
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.