• Clinical and Experimental Pediatrics
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• 제63권3호
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• pp.79-87
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• 2020

Inherited platelet disorders (IPDs), which manifest as primary hemostasis defects, often underlie abnormal bleeding and a family history of thrombocytopenia, bone marrow failure, hematologic malignancies, undefined mucocutaneous bleeding disorder, or congenital bony defects. Wide heterogeneity in IPD types with regard to the presence or absence of thrombocytopenia, platelet dysfunction, bone marrow failure, and dysmegakaryopoiesis is observed in patients. The individual processes involved in platelet production and hemostasis are genetically controlled; to date, mutations of more than 50 genes involved in various platelet biogenesis steps have been implicated in IPDs. Representative IPDs resulting from defects in specific pathways, such as thrombopoietin/MPL signaling; transcriptional regulation; granule formation, trafficking, and secretion; proplatelet formation; cytoskeleton regulation; and transmembrane glycoprotein signaling are reviewed, and the underlying gene mutations are discussed based on the National Center for Biotechnology Information database and Online Mendelian Inheritance in Man accession number. Further, the status and prevalence of genetically confirmed IPDs in Korea are explored based on searches of the PubMed and KoreaMed databases. IPDs are congenital bleeding disorders that can be dangerous due to unexpected bleeding and require genetic counseling for family members and descendants. Therefore, the pediatrician should be suspicious and aware of IPDs and perform the appropriate tests if the patient has unexpected bleeding. However, all IPDs are extremely rare; thus, the domestic incidences of IPDs are unclear and their diagnosis is difficult. Diagnostic confirmation or differential diagnoses of IPDs are challenging, time-consuming, and expensive, and patients are frequently misdiagnosed. Comprehensive molecular characterization and classification of these disorders should enable accurate and precise diagnosis and facilitate improved patient management.

• The Plant Pathology Journal
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• 제26권2호
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• pp.159-169
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• 2010

Lesion mimic mutant (LMM) plants display spontaneous necrotic lesions on their leaves without any pathogenic infection. Specific rice LMMs designated as spotted leaf (spl) including spl1, spl3, spl4, spl5 and spl6 are genetically known as lesion resembling disease (lrd) mutant. The inheritance patterns in the $F_1$ and $F_2$ progenies of these mutants are controlled by recessive genetic factors. Lesion development in the rice LMMs were controlled by both development stages and environmental factors. The rice LMMs exhibited higher numbers of spots under $45^{\circ}C$ temperature than those under $30^{\circ}C$. Contents of chlorophyll were drastically reduced at 60 days old LMM leaves when the spot formation was severe. The levels of endogenous hydrogen peroxide were highest at 45 days old mutants but reduced at 60 days old. Transcription levels of stress related genes including thioredoxin peroxidase and protein disulfide isomerase were reduced in spotted leaves than those of non spotted leaves. It could be suggested that scavenging system against reactive oxygen species induced by either stresses or innate metabolisms may not work properly in the rice LMMs. As these rice LMMs autonomously expressed clear lesions of lrd phenotype without pathogen infection, it could be useful to understand stresses responses in plants.

• 대한수의학회지
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• 제33권1호
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• pp.43-51
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• 1993

Mitochondrial DNA(mt DNA) of Mammalian is the circular one which the 16.5K base pairs and show the maternal inheritance. Evolutional speed of nucleotide sequence is very fast. So that polymorphic analysis of mt DNA provide the useful informations to investigate the genetic relations of interspecies. Authors trials were focussed to compare with the polymorphic differences of mitochondrial DNA between Jindo and Japanese mongrel dogs. DNA was extracted from bloods of 21 head of Jindo dogs and 20 head of Japanese dogs and isolated using 10 kinds of restriction endonucleases(Apa I, BamH I, Bgl II, EcoR I, EcoR V, Hinc II. Hind III, Pst I, Sty I, Xba I) and then separated by the agarose gel electrophoresis. After sourthern blotting hybridization was completed using the mtDNA of Japanese mongrel dogs as a probe. Autoradiography was used to compare the polymorphism of mtDNA both dogs. The results obtained were as follows; 1. mt DNA of Jindo dog showed polymorphism resulting cleavage with four kinds of restriction endonuclease, Apa I, EcoR V, Hinc II, Sty I. While in the Japanese mongrel dogs observed the polymorphism in the five kinds of restriction endonuclease supplemented with EcoR I. 2. Compared with both dogs the frequency differences of DNA polymorphism were recognized in the specific restriction endonuclease Apa I. Consequently in the restriction endonuclease Apa I both dogs classified with three types as A, B, C however in the Jindo dogs frequency of C type was 71.5 percent but in Japanese mongrel dogs observed 45 percent in the A type. 3. DNA polymorphism obtained from the use of five kinds of restriction endonuclease were classified with seven types. In Jindo dogs frequency was highest in the type 6 as 71.4 percent but in the Japanese mongrel dogs showed 35 percent in the type 5. 4. Genetic distances calculated by NEI method showed 0.0089 in Jindo dogs and was 0.0094 in the Japanese mongrel dogs.

• Asian-Australasian Journal of Animal Sciences
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• 제17권6호
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• pp.737-742
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• 2004

Garole, a prolific small sized sheep breed of West Bengal, was introduced in the Mutton project of the Institute in 1997 to explore the possibility of incorporating fecundity gene(s) into monotocus Malpura sheep of Rajasthan. Results of reproduction and production traits in respect of Garole${\times}$Malpura (G${\times}$M) half-breds have been obtained. Of 35 lambing obtained so far from the ewes of Garole${\times}$Malpura, 45.71% were twin lambing, whereas, Malpura sheep produced mostly single lamb except 2.55% twin lambing on an average. Other reproduction traits in G${\times}$M ewes such as lambing rate, litter size at birth and weaning were considerably improved over Malpura ewes. Results revealed that the fecundity genes responsible for increasing ovulation rate and litter size have been incorporated in to the G${\times}$M genotype and it might prove a valuable germ plasm towards evolving a new prolific strain of sheep. Interestingly, survivability of G${\times}$M half-breds was almost at par with the local Malpura sheep in harsh climatic conditions of semi-arid tropics. The body weights at different ages of G${\times}$M half-breds were on little lower side compared to contemporary Malpura lambs. Average kilogram of lambs weaned/ewe lambed in Malpura and G${\times}$M genetic group was 11.86 and 11.07 kg respectively. In view of minimizing the differences in body weights and kg of lambs weaned/ewe lambed between the two genetic groups, G${\times}$M ewes has to be backcrossed with Malpura rams to raise the inheritance of latter up to 75% level. However, further research is needed to reach on certain conclusions regarding net returns from such crosses.

• Journal of Genetic Medicine
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• 제1권1호
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• pp.33-37
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• 1997

Spinal muscular atrophy (SMA) is the second most common fatal disease of childhood with autosomal dominant mode of inheritance, and in its less severe form the third most common neuromuscular disease of childhood after Duchenne muscular dystrophy. The genetic defect was found to be on the long arm of chromosome 5 (5q11.2-q13.3) where many genes and microsatellite markers were missing. One of the most important genes is the Survival Motor Neuron (SMN) gene which is homozygously missing in 90% of SMA patients. Another important gene, the Neuronal Apoptosis Inhibitory Protein (NAIP) gene was found to be defective in 67% of SMA type I patients. Studies so far suggest SMA occurs when the genes on the long arm of chromosome 5 are mutated or deleted. Recently our hospital encountered 2 SMA patients of type I and II respectively. These patients both had homozygously defective SMN genes but intact NAIP genes. We are reporting these cases with bibliographic review and discussion. Korean SMA patients presumably have defects in SMN genes similar to those found in European patients, although the significance of NAIP genes remains to be established. SMN gene defects can be easily diagnosed using PCR and restriction enzymes, and this method could be applied towards convenient prenatal diagnosis and towards screening for family members at risk.

• 식물조직배양학회지
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• 제27권2호
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• pp.77-82
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• 2000

벼 종자배양에서 식물체 재분화 능력이 서로 다른 품종간에 교배된 잡종집단을 대상으로 캘러스 형성과 식물체 재분화 능력에 대한 유전양식을 구명한 결과는 다음과 같다. '밀양 23호/추청벼', '삼강벼/낙동벼' 및 '밀양 23호/대립벼 1호'조합 F₂집단의 캘러스 생장량에 대한 빈도분포는 3조합 모두 정규분포에 가까운 연속적인 분포양상을 나타내었으며, 각 조합에서 추정된 광의의 유전력은 조합에 따라 83.8%에서 90.1%로 높게 나타났다. 식물체 분화율의 경우 조합에 따라 유전양상이 다르게 나타났는데, '대립벼 1호/밀양 23호' 조합은 F₂집단의 평균 식물체 분화율이 43.6%로 양친의 평균치 보다 높게 나타나면서 빈도분포 면에서 캘러스 생체중과 동일한 양상을 보여 우성으로 작용하는 다수의 유전자에 의해 지배되는 것으로 나타났으며, 식물체 재분화 능력에 대한 광의의 유전력은 83.4%로 높게 추정되었다. 그러나 '밀양 23호 /추청벼' 조합과 '삼강벼/낙동벼' 조합의 경우는 식물체 재분화 능력이 높은 것과 낮은 것이 3 : 1의 이론적 분리비에 적합한 것으로 나타나 '추청벼'와 낙동벼'의 식물체 재분화에는 하나의 우성유전자가 관여하는 것으로 조사되었다.

• Biomolecules & Therapeutics
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• 제10권3호
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• pp.193-199
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• 2002

The arylamine N-acetyltransferases (NATs) are a family of enzymes that N-acetylate mylhydrazines and arylamines through transfer of an acetyl group from acetyl coenzyme A. This activity was found to vary among individuals as a Mendalian trait and the basis of the genetic differences in human NAT activity is one of the best of the genetic studied examples of pharmacogenetic variation. The classical N-acetylation polymorphism is regulated at the NAT2 locus, which segregates individuals into rapid, intermediate, and slow acetylator phenotypes. In this study, the relationship between NAT2 activity phenotype using HPLC:UV assay for the determination of dapsone and monoacetyldapsone in plasma and NAT2 genotype by PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) was investigated in the F2 hybrid (Fischer 344 vs Wistar-Kyoto) rats. Three Common mutant alleles at the NAT2 gene locus have been identified in the F2 generation progeny of Fischer 344 rats as raid acetylator and Wistar-Kyoto rats as slow acetylator segregated into three modes (low, intermediates, and high) with simple Mendelian inheritance. The metabolic activity of NAT2 of the intermediate and rapid acetylators is significant1y greater than slow acetylator, but the metabolic activity of rapid acetylator is not significantly different from Intermediate type. Therefore, we could observe that complete trimodal NAT2 genotypic alleles and incomplete trimodal NAT2 metabolic phenotypic distribution in tile F2 hybrid rats. These observations suggest that the relationships between NAT2 genotype and metabolic phenotype exists and F2 hybrid (Fischer 344: Wistar-Kyoto) animal models about NAT2 polymorphism might be applied in the toxicity and pharmacogenetic studies of arylamine drugs and carcinogens.

• Journal of Genetic Medicine
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• 제13권1호
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• pp.31-35
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• 2016

Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to airway narrowing after birth. ABS is associated with mutations in the FGFR2 and POR genes. Patients with POR mutations present with either skeletal manifestations or congenital adrenal hyperplasia with ambiguous genitalia. We report here two cases of ABS caused by mutations in FGFR2 and POR. Although the patients had craniosynostosis and radiohumeral synostosis in common and cranioplasty was performed in both cases, the male with POR mutations showed an elevated level of $17{\alpha}$-hydroxyprogesterone during newborn screening and was diagnosed with congenital adrenal hyperplasia by adrenocorticotropic hormone stimulation. This patient has been treated with hydrocortisone and fludrocortisone. He had no ambiguous genitalia but had bilateral cryptorchidism. On the other hand, the female with the FGFR2 mutation showed severe clinical manifestations: upper airway narrowing leading to tracheostomy, kyphosis of the cervical spine, and coccyx deformity. ABS shows locus heterogeneity, and mutations in two different genes can cause similar craniofacial and skeletal phenotypes. Because the long-term outcomes and inheritance patterns of the disease differ markedly, depending on the causative mutation, early molecular genetic testing is helpful.

• 한국작물학회지
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• 제46권4호
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• pp.296-302
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• 2001

Winter cereals are acclimated during wintering, and thereafter their freezing resistance is increased. In order to analyze inheritance and heritabilities for photoinhibition of photosynthesis by high light intensity under low temperature, and to evaluate the relationship between low temperature-induced photoinhibition and winter survival, 4 parental half diallel crosses were used. The detached leaves of 7-8cm long from plants grown for 35 and 55 days were placed on wet filter paper and placed in trays at 5$^{\circ}C$ cold room with 1,200 $\mu$mol $m^{-2}$ $s^{-1}$ PPFD. Chlorophyll fluorescence was measured with a chlorophyll fluorescence system after dark adaptation for 30 min. The Fv/Fm of 35day old plants was reduced from 0.714 in the control leaves to 0.409 and 0.368 following photoinhibitory treatment of 6h and 8h and the CVs were increased from 0.8% to 22.2-22.3%. The Fv/Fm of 55-day old plants was reduced from 0.775 in the control leaves to 0.485 and 0.439 following photoinhibitory treatment of 10h and 12h, respectively. According to half diallel cross analysis, Reno and Dongbori 1 (highly resistant to photoinhibition) was dominant, but Oweolbori (susceptible to photoinhibition) was recessive, and photoinhibition showed partial dominance with highly additive gene action. Dongbori 1 showed the greatest GCA effects for photoinhibition, and GCA/SCA ratios (8.7-22.3 times) indicated that the additive variance for the character was more important. Winter survival in barley crosses was positively correlated with resistance to photoinhibition and significantly fitted by linear regression ($R^2$=0.751$^{**}$-0.779$^{**}$). The chlorophyll fluorescence measured by Fv/Fm has been found to be highly inheritable and very useful in evaluating relative levels of freezing resistance in barley.ley.

• Journal of Genetic Medicine
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• 제15권1호
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• pp.13-16
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• 2018

X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In the current report, a 2-year-old Korean patient with XLRS was described. The germline deletion of exon 1 was identified in the RS1 gene. Considering X-linked inheritance pattern, validation of a carrier state of a patient's mother is important for the genetic counseling of other family members and for the future reproductive plan. To confirm the carrier state of his mother, the multiplex ligation-dependent probe amplification analysis was done using peripheral leukocytes and found the heterozygous deletion of exon 1 in his mother.