• Journal of Genetic Medicine
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• 제2권1호
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• pp.35-39
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• 1998

Duchenne/Becker muscular dystrophy are the major neuromuscular disorders with X-linked recessive inheritance. Preimplantation diagnosis of sex determination has been generally used to avoid male pregnancies with these diseases. However, in order to determine if the embryo is normal, carrier or affected regardless of the sex, there is a need for a combined analysis of specific exon on dystrophin gene as well as sex determination of embryo using the same biopsied blastomere. If the exon deletion is not determinable, further diagnosis of carrier or patient can be performed by haplotype analysis. In this study, we applied the primer extension preamplification (PEP) method, which amplifies the whole genome, in 40 cases of single amniocyte and 40 cases of chorionic villus cell. We analysed haplotypes using two (CA)n dinucleotide polymorphic markers located at the end of 5' and 3' region of the dystrophin gene. Exon 46 of dystrophin gene and DYZ3 on chromosome Y were chosen as a target sequence for coamplification PCR. Upon optimizing the conditions, the amplification rates were 91.25% (73/80) for haplotypes (92.5% in amniocyte, 90% in chorionic villus cell) and 88.75% (71/80) for coamplification (85% in amniocyte, 92.5% in chorionic villus cell). The result of the study indicates that haplotypes analysis and coamplification of dystrophin and Y-specific gene using PEP can be applied to prenatal and preimplantation diagnosis in Duchenne/Becker muscular dystrophy making it possible to determine if the fetus is a carrier or an affected one.

• 한국작물학회지
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• 제42권5호
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• pp.626-631
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• 1997

옥수수의 숙기가 서로다른 8개의 자식계통과 이들간의 이면교배에 의하여 생산된 28개 $F_1$을 공시하여 등숙기간의 유전분석을 실시하였던 바 그 결과는 다음과 같다. 1. 초기등숙기간에서는 상가적 효과가 큰 부분우성으로 추정되었으며 유효등숙기간은 비대립 유전자의 상호작용이 없는 초우성으로 추정되었다. 2. 총등숙기간과 흑색층 출현일수는 상가적 효과가 비상가적 효과보다 큰 부분우성으로 추정되었다. 3. 유전자 분포상태는 유효등숙기간과 총등숙기간에서 양친들 중 FR25는 열성유전자의 관여도가 크게 나타났으며 YUBC208은 열성유전자로서의 관여도가 크게 작용하였다. 4. 유효등숙기간과 총등숙기간에 관여하는 유효 유전자수는 최소한 5개 정도가 있는 것으로 추정되었다.

• International Journal of Industrial Entomology and Biomaterials
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• 제2권1호
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• pp.87-89
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• 2001

The nucleotide sequence of the domestic silkworm (Bombyx mori) mitochondrial (mt) control region and its flanking genes was determined from PCR clones. The control region of the silkworm mt genome was located between the small ribosomal RNA gene and transfer RN $A^{Met}$. This 499 bp control region hale 95.4% A+T content. Extensive comparative analysis studies performed with similar control region of other insect genomes could not reveal a highly conserved region containing conserved motifs of animal mito-chondrial genome. The remarkable feature that found in this control region was the presence of tandem motifs containing nine repetitive sequences. The potential usefulness of this motif sequences for Bombyx species or their taxonomically related species is enhanced by its unique localization in the maternally inheritance mitochondrial molecule.e.

• 한국작물학회지
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• 제47권1호
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• pp.36-41
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• 2002

Two rice varieties, 'Oochikara' with large grain and 'Hwayeongbyeo' and their progenies (F$_1$, F$_2$, B$_1$ and B$_2$) were tested to understand gene action of morphological traits of rice grain and their relationships. The evaluated traits were 1,000-grain weight, grain length, width, thickness, length-width ratio and chalkiness of brown rice. Correlation between grain weight and chalkiness was highly significant in the all progenies, and grain length were not associated with width and thickness in an F$_2$ population. Scaling test and jonit scaling test revealed that inheritance of grain traits were fitted to additive-dominance model without epistasis. Additive effects for the traits were much greater than the dominance effects.

• Communications for Statistical Applications and Methods
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• 제24권6호
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• pp.663-671
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• 2017

Some genetic association tests include an unidentifiable nuisance parameter under the null hypothesis of no association. When the mode of inheritance (MOI) is not specified in a case-control design, the Cochran-Armitage (CA) trend test contains an unidentifiable nuisance parameter. The transmission disequilibrium test (TDT) in a family-based association study that includes the unaffected also contains an unidentifiable nuisance parameter. The hypothesis tests that include an unidentifiable nuisance parameter are typically performed by taking a supremum of the CA tests or TDT over reasonable values of the parameter. The p-values of the supremum test statistics cannot be obtained by a normal or chi-square distribution. A common method is to use a Davies's upper bound of the p-value instead of an exact asymptotic p-value. In this paper, we provide a unified sine-cosine process expression of the CA trend test that does not specify the MOI and the TDT that includes the unaffected. We also present a closed form expression of the exact asymptotic formulas to calculate the p-values of the supremum tests when the score function can be written as a linear form in an unidentifiable parameter. We illustrate how to use the derived formulas using a pharmacogenetics case-control dataset and an attention deficit hyperactivity disorder family-based example.

• 정보처리학회논문지B
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• 제11B권5호
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• pp.611-618
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• 2004

본 논문에서는 인터넷상의 대용량 자료에서 원하는 정보를 검색하기 위한 지원 기능으로서 분산 객체지향 데이타베이스에서 클래스를 분할하여 여러 사이트에 분산시키는 기법에 관하여 설계 및 구현하였다 제안된 분산 기법은 클래스의 분할 과정과 할당 과정으로 구성된다. 클래스의 분할 과정에서는 메소드, 계승 및 복합 객체와 같은 객체지항 데이터베이스의 특성을 반영하여 클래스를 분할하였으며 할당 과정에서는 저장, 질의 처리 및 전송비용을 고려하여 할당수식을 정의하였으며 이를 유전자 알고리즘을 이용하여 구현하였다.

• 원예과학기술지
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• 제28권4호
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• pp.618-626
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• 2010

장미속 종간교잡 후대에서 발견되는 경모유전(matroclinal inheritance) 현상은 세포질 유전, 단위결과, 그리고 비대합적 배우자생식(asynaptic heterogamy)의 결과로 설명될 수 있다. 비대합적 배우자생식은 $Caninae$ 아절($Rosa$ $hybrida$ L. sect. $Caninae$ DC.)의 종간교잡에서 독특하게 관찰되며, 5배체의 경우, 화분세포를 통해서는 2가염색체(2x=14)를 이루는 상동게놈 중 한 게놈(x=7)만이, 난세포에서는 이러한 게놈(x=7)과 더불어 1가 염색체를 이루는 나머지 게놈들(3x=21)이 동시에 유전되어 후대에서 종자친의 배수성(5x=35)이 회복된다. 본 연구에서는 절화장미 품종간 정역교배시 대립유전자의 후대유전 빈도를 관찰함으로써, 4배체 품종교배에서 관찰되는 경모유전의 요인을 분석하고자 하였다. 절화장미 6품종을 이용한 6개 정역교배조합 당 8개의 후대개체를 총 30개의 EST-SSR 마커로 검정해 본 결과, 뚜렷한 세포질 유전의 경우는 발견되지 않았다. 또한, 단위결과의 경우도 'Redtem' ${\times}$ 'Red Sandra' 조합의 후대개체 하나에서만 발견되어, $Caninae$ 아절의 종간교잡에서와 비교하여 상당히 낮은 빈도였다. 비대합적 배우자생식의 예도 $Caninae$ 아절의 경우처럼 뚜렷하게 나타나지는 않았다. 하지만, 6개 공시품종 중, 4개의 품종에서 화분친 보다 종자친으로 교배시 품종 특이적 마커의 후대유전빈도가 상대적으로 높게 나타나 품종에 따라 대립유전자의 모계유전적 성향이 존재함을 증명하였다. 특히 'Yellow King'의 경우, 11개의 대립유전자 중 10개가 종자친일 경우에 후대집단에서 높은 빈도로 나타나 공시품종 중 가장 강한 모계유전성을 보였다.

• 한국잠사곤충학회지
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• 제39권2호
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• pp.134-139
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• 1997

To elucidate genetical and biochemical characters of the white egg strains preserved in National Sericultural and Entomology Research Institute(NSERI), RDA of Korea, the genetic segregation ratios in egg colours were investigated by crossing test, and egg pigment precursors were also analyzed by paper chromatography and UV-spectrophotometer scanning. The result obtained by crossing test between the white egg strains and normal one illustrated that the most of white egg strains showed typical segregation ratio of white egg-2(w-2), while maternal inheritance which can be seen in white egg-1(w-1) was not found in any white egg strains. Paper chromatographic analysis showed that egg extracts of all the white egg strains contained 3OH-kynurenine, while kynurenine which is known to existed in white egg-1(w-1) could not be detected at all. From the results of these experiments, it was found that all the white egg strains preserved in NSERI were classified as the white egg-2(w-2) strain.

• Clinical and Experimental Pediatrics
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• 제56권10호
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• pp.456-458
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• 2013

Cystic fibrosis (CF) is a genetic disease with autosomal recessive inheritance and is common in Caucasian people. The prevalence of this disease is between 1/2,000 and 1/3,500 live births, and the incidence varies between populations. Although the CF transmembrane conductance regulator gene is expressed in the kidneys, renal involvement is rare. With advances in the treatment of CF, life expectancy has increased, and some previously unobserved disease associations are now seen in patients with CF. It is important to follow patients with CF for possible abnormalities that may accompany CF. In this paper, we present two rare cases of CF accompanied by nephrotic syndrome.

• Journal of Chest Surgery
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• 제15권1호
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• pp.67-72
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• 1982

Kartagener`s syndrome is a clinical entity composed of situs inversus, bronchiectasis and chronic sinusitis. This syndrome is rare and is usually detected in childhood. Whether the bronchiectasis in Kartagener`s syndrome is congenital or acquired is still controversial. Some familial cases of this syndrome have been reported, and in these cases the genetic pattern is compatible with an autosomal recessive inheritance with some degree of pleotropism. The authors experienced having 2 cases of Kartagener`s syndrome among 6 siblings in a family. The case No. 1 have had bilateral Caldwell Luc operation, posterior ethmoidectomy, left upper Iobec-tomy with excellent result. The case No. 2 denied to have surgical management.