• Journal of Genetic Medicine
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• 제18권2호
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• pp.83-93
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• 2021

Charcot-Marie-Tooth disease (CMT) is the most common hereditary motor and sensory peripheral neuropathy. CMT is usually classified into two categories based on pathology: demyelinating CMT type 1 (CMT1) and axonal CMT type 2 (CMT2) neuropathy. CMT1 can be distinguished by assessing the median motor nerve conduction velocity as greater than 38 m/s. The main clinical features of axonal CMT2 neuropathy are distal muscle weakness and loss of sensory and areflexia. In addition, they showed unusual clinical features, including delayed development, hearing loss, pyramidal signs, vocal cord paralysis, optic atrophy, and abnormal pupillary reactions. Recently, customized treatments for genetic diseases have been developed, and pregnancy diagnosis can enable the birth of a normal child when the causative gene mutation is found in CMT2. Therefore, accurate diagnosis based on genotype/phenotypic correlations is becoming more important. In this review, we describe the latest findings on the phenotypic characteristics of axonal CMT2 neuropathy. We hope that this review will be useful for clinicians in regard to the diagnosis and treatment of CMT.

• Asian-Australasian Journal of Animal Sciences
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• 제25권9호
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• pp.1205-1215
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• 2012

This study was conducted to establish genetic criteria for phenotypic characteristics of Hanwoo cattle based on allele frequencies and genetic variance analysis using microsatellite markers. Analysis of the genetic diversity among 399 Hanwoo cattle classified according to nose pigmentation and coat color was carried out using 22 microsatellite markers. The results revealed that the INRA035 locus was associated with the highest $F_{is}$ (0.536). Given that the $F_{is}$ value for the Hanwoo INRA035 population ranged from 0.533 (white) to 1.000 (white spotted), this finding was consistent with the loci being fixed in Hanwoo cattle. Expected heterozygosities of the Hanwoo groups classified by coat colors and degree of nose pigmentation ranged from $0.689{\pm}0.023$ (Holstein) to $0.743{\pm}0.021$ (nose pigmentation level of d). Normal Hanwoo and animals with a mixed white coat showed the closest relationship because the lowest $D_A$ value was observed between these groups. However, a pair-wise differentiation test of $F_{st}$ showed no significant difference among the Hanwoo groups classified by coat color and degree of nose pigmentation (p<0.01). Moreover, results of the neighbor-joining tree based on a $D_A$ genetic distance matrix within 399 Hanwoo individuals and principal component analyses confirmed that different groups of cattle with mixed coat color and nose pigmentation formed other specific groups representing Hanwoo genetic and phenotypic characteristics. The results of this study support a relaxation of policies regulating bull selection or animal registration in an effort to minimize financial loss, and could provide basic information that can be used for establishing criteria to classify Hanwoo phenotypes.

• Fisheries and Aquatic Sciences
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• 제16권2호
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• pp.125-129
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• 2013

Vibrio ichthyoenteri is a facultatively anaerobic gram-negative bacterium with straight or slightly curved rod morphology. The bacterium is an etiological agent of bacterial enteritis of Olive flounder Paralichthys olivaceus. Only a handful of studies, using a limited number of isolates, have investigated the phenotypic and genetic characteristics of V. ichthyoenteri. We isolated 40 V. ichthyoenteri strains, identified based on the 16S rRNA gene sequence, from the diseased flounder larvae and investigated the API 20E and ZYM profiles. The isolates exhibited highly divergent phenotypic characteristics regardless of sampling time point and location, and fish age. Essential enzymes produced by V. ichthyoenteri seemed to be alkaline phosphatase, leucine arylamidase, and N-acetyl-${\beta}$-glucosaminidase. This study reveals a much greater enzymatic and biochemical phenotype diversity than has been evident to date. These results suggest that a given population of V. ichthyoenteri could be heterogeneous in terms of its phenotypic characteristics.

• Asian-Australasian Journal of Animal Sciences
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• 제15권8호
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• pp.1080-1084
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• 2002

Carcass characteristics of 241 crossbred pigs (Korean wild boars ${\times}$ Landrace sows) were analyzed to examine variations in fasted body weight (FASTWT), carcass weight (CARCWT), dressing percentage (DP), back fat thickness (BFT) and longissimus muscle weight (LMW), and to estimate genetic and phenotypic parameters using three different slaughter-end points. Covariates in the least squares full sib model were slaughter age, fasted body weight and back fat thickness of the carcass. Coefficient of variation was highest for BFT followed by LMW, CARCWT, FASTWT and DP in magnitude. Regressions of three covariates on traits were all linear. However, slaughter age was not significant as a linear covariate for five traits while FASTWT was significant for CARCWT and LMW and BFT was significant for all remaining traits. Genetic and phenotypic variation was considerably reduced by regressing FASTWT or BFT in the model. Heritability estimates of FASTWT, CARCWT, DP and BFT were 0.68, 0.61, 0.11 and 0.49, respectively, using slaughter age as covariate (model 1). Those of CARCWT, DP, BFT and LMW were 0.15, 0.15, 0.30 and 0.11, respectively, using FASTWT as covariate (model 2). Heritability estimates of the traits using LMW as covariate (model 3) were similar to the estimates from Model 1 except that the estimate of CARCWT was reduced to 0.39. Genetic or phenotypic correlations among FASTWT, CARCWT and BFT were all positive and moderate to high. Those between BFT and LMW were also positive and low to moderate. However, genetic and phenotypic correlations between DP and CARCWT were positive while those between DP and FASTWT were negative. It was suggested from this study that differences in carcass yield traits be determined using slaughter age or back fat thickness as slaughter-end point and carcass quality traits using fasted body weight as slaughter-end point.

• The Plant Pathology Journal
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• 제27권2호
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• pp.128-137
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• 2011

Fifty two Macrophomina phaseolina isolates were recovered from 24 host plant species through the 14 Iranian provinces. All isolates were confirmed to species using species-specific primers. The colony characteristics of each isolate were recorded, including chlorate phenotype, relative growth rate at $30^{\circ}C$ and $37^{\circ}C$, average size of microsclerotia, and time to microsclerotia formation. The feathery colony phenotype was the most common (63.7%) on the chlorate selective medium and represented the chlorate sensitive phenotype of the Iranian Macrophomina phaseolina population. Meantime, inter simple sequence repeats (ISSR) Markers were used to assess the genetic diversity of the fungus. Unweighted pair-group method using arithmetic means (UPGMA) clustering of data showed that isolates did not clearly differentiate to the specific group according to the host or geographical origins, however, usually the isolates from the same host or the same geographic origin tend to group nearly. Our results did not show a correlation between the genetic diversity based on the ISSR and phenotypic characteristics. Similar to the M. phaseolina populations in the other countries, the Iranian isolates were highly diverse based on the phenotypic and the genotypic characteristics investigated and needs more studies using neutral molecular tools to get a deeper insight into this complex species.

• Journal of Microbiology
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• 제41권1호
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• pp.7-15
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• 2003

Nine dichlorprop-degrading bacteria and three pairs of bacteria showing syntrophic metabolism of the herbicide were isolated from soils, and their genetic and phenotypic characteristics were investigated. Analysis of 16S rDNA sequences indicated that the isolates were related to members of the genera, Sphingomonas, Herbaspirillum, and Bradyrhizobium. Twelve different chromosomal DNA patterns were obtained by polymerase-chain-reaction (PCR) amplification of repetitive extragenic palindromic (REP) sequences from the 15 isolates. The isolates were able to utilize the herbicide dichlorprop as a sole source of carbon and energy and their dichlorprop derogative pathways were induced by the presence of dichlorprop. Most of the isolates and syntrophic pairs were able to degrade both (R)- and (S)-dichlorprop, but strain DP522 exhibited enantioselective degradation of (S)-dichlorprop. The isolates degraded 2,4-dichlorophenoxyacetic acid, 2-methyl-4-chlorophenoxyacetic acid , and mecoprop, in addition to dichlorprop. Oxygen uptake experiments indicated that most of the isolates degraded dichlorprop through 2,4-dichlorophenol.

• 한국자원식물학회지
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• 제11권3호
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• pp.264-271
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• 1998

This study was conducted to investigate morphological characteristics of Korean local garlic varieties and to define the genetic variability and the correlations amongthe characters associated with yield. The plant height, the leaf sheath diameter, the nubmer of leaves, and bulb weight were significantly increased in the garlic plants from heavier seed bulbs. The proportation of six clove bulbs was more than 60% in Seosan variety and this was not realted with the number of cloves in seed bulb. While more than 70% bulbs in Jeoksung and Danyang varieties cultivated in paddy field were composed of 6 or 7 cloves, majority of the bulbs of Euisung and Danyang varieties cultivated in upland were composed of bulbs with 7 cloves or more. The highest genotypic coefficient of variation (GCV) and phenotypic coefficient of variation (PCV) were observed in bulb weight. GCV and PCV also showed high value in leaf sheath diameter. Thus, there is a greater scope for selection of these characters. The small difference between PCV and GCV values in plant height indicates that the environmental influence would be limited in this character. High heritability was observed of plant height (56.76%) and bulb weight (45.95%). And the weight per bulb (34.24%) exhibited highest genitic advance followed by leaf sheath diameter (18.8%) and plant height (9.61%), and those would be the ideal characters for selelction.

• Journal of Genetic Medicine
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• 제11권1호
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• pp.27-30
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• 2014

Brachydactyly type C is a limb malformation characterized by shortening of the second, third, and fifth middle and/or proximal phalanges, but it has variable phenotypic expressivity. Mutations in the growth differentiation factor-5 (GDF5) gene cause isolated brachydactyly C. Herein, we report a familial case with isolated brachydactyly type C characterized by brachymesophalangy of both second and third digits, with a GDF5 missense mutation, and discuss the phenotypic variability of the condition. Identifying more cases with genetic confirmation will help elucidate the clinical and genetic characteristics of this condition in the Korean population.

• 한국잠사곤충학회지
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• 제43권2호
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• pp.67-76
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• 2001

The "crescent-egg" a new spontaneous mutant was detected in a white egg strain k37. Studies were carried out the linkage analysis, to investigate phenotypic characteristics and biochemical analysis of haemolymph and ovarian protein. The mutant, ore was independent from 20 linkage groups P(2), Ze(3),L(4), oc(5), sn8), Ia(9), w-1(10), K(11), ch(13), U(14), bl(15), cts(16), bts(17), mln(18), nb(19), oh(20),Lan(21), or(22), tub(23) and Xan(27). The fertilization, hatchability and larval growth were not different from the those of normal eggs. The content and composition of yolk protein were similared to normal eggs. Scanning electron microscopy revealed the areal specific structure in dorsal region of egg-shell of cre mutant. Analysis of chorion protein by isoelectrofocusing(IEF), was resolved no difference in the composite of the chorion protein. We conclude that the egg mutant ere is expressed only in the egg-shape formation and region specific determination.

• Journal of Microbiology
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• 제42권2호
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• pp.87-93
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• 2004

Twelve mecoprop-degrading bacteria were isolated from soil samples, and their genetic and phenotypic characteristics were investigated. Analysis of 16S rDNA sequences indicated that the isolates were related to members of the genus Sphingomonas. Ten different chromosomal DNA patterns were obtained by polymerase-chain-reaction (PCR) amplification of repetitive extragenic palindromic (REP) sequences from the 12 isolates. The isolates were found to be able to utilize the chiral herbicide meco-prop as a sole source of carbon and energy. While seven of the isolates were able to degrade both (R)-and (S)-mecoprop, four isolates exhibited enantioselective degradation of the (S)-type and one isolate could degrade only the (R)-enantiomer. All of the isolates were observed to possess plasmid DNAs. When certain plasmids were removed from isolates MPll, MP15, and MP23, those strains could no longer degrade mecoprop. This compelling result suggests that plasmid DNAs, in this case, conferred the ability to degrade the herbicide. The isolates MP13, MP15, and MP24 were identified as the same strain; however, they exhibited different plasmid profiles. This indicates that these isolates acquired dif-ferent mecoprop-degradative plasmids in different soils through natural gene transfer.