• Clinical and Experimental Pediatrics
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• 제46권8호
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• pp.831-835
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• 2003

저자들은 특징적인 안면 기형과 발열이 있는 semilobar type의 holoprosencephaly 환아에서 국내에서는 보고된 바 없는 염색체 검사상 21번 염색체 단체성이 동반된 holoprosencephaly 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• 한국임상수의학회지
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• 제19권3호
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• pp.357-359
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• 2002

Male pseudohermaphrodites is one of abnormalities of phenotypic sex and have an XY chromosome constitution and testes, but the internal or external genitalia are to some degree those of a female. We surveyed one case which were referred in Veterinary Medical Teaching Hospital of Seoul National University. When patient was purchased, its phenotype was entirely female that have female external genitalia. However, from the age of 6 months, clitoris was gradually increased to Os clitoris, and patients showed male behavior. Critical clinical sign was trauma of protruded Os clitoris. In radiographic and ultrasonographic examination, he had normal vagina and urinary bladder. In chromosome examination, he had an XY chromosome constitution. This case was performed removal of Os clitoris and ovariohysterectomy.

• Journal of Animal Science and Technology
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• 제47권3호
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• pp.317-324
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• 2005

A method for sex determination of pigs was examined using polymerase chain reaction(PCR). Sex determining region Y(SRY) gene encoded on Y chromosome plays a key role for primary male development. Zinc finger X-Y(ZFX-ZFY) gene, one of the X-V homology gene group was found on the X and Y chromosomes, respectively, We tested for molecular sexing by amplification patterns of SRY and ZF genes. Genomic DNAs from various resources including porcine hairs and semen collected from domestic pig breeds and native pigs was used for PCR assay of each gene. The amplified products for porcine SRY gene were yielded only in males but not in females. On the other hand, two differential patterns were observed in amplification of ZF gene reflecting the chromosomal dimorphism by a length polymorphism between X and Y chromosomes. Of both, a common band was detected in all individuals tested so that this band might be amplified from ZFX gene as a PCR template, but another is specific for males indicated that from ZFY. The result of PCR assay provides identical information to that from investigation of phenotypic genders of the pigs tested. We suggest that this PCR strategy to determine porcine sexes using comparison of the amplification patterns of the SRY gene specific for Y chromosome and the dimorphic ZF gene between X and Y chromosomes may be a rapid and precise method for discrimination of two sexes and applied to DNA analysis of small samples such as embryonic blastomere, semen, and hairs.

• 대한의생명과학회지
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• 제15권4호
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• pp.363-368
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• 2009

One of the frequent occurrences in rearrangements is chromosome inversion. Pericentric inversion is considered to be the variant of normal karyotype. We investigated the karyotypes of 1195 cases being referred to prenatal diagnosis using standard GTG banding for karyotype preparation. The chromosomal analysis revealed a total of 15 (1.26%) inversions. The characteristics of inversion type [(inv(4), inv(8), inv(9), inv(11)) were investigated on the basis of chromosomal analyses of fetuses and their parents. The results from chromosomal examination of the parents, whose fetuses were diagnosed as inversion, show that either parent might be the carrier. Inversion in human chromosome is commonly seen in normal humans and the frequency estimated to be 1 to 2% in general population and the exact amount of this phenomenon is still unclear. These results indicate that inv(8), inv(9), and inv(11) are phenotypically normal. However these may often cause clinical problems in offspring of the carrier, such as fetal wastage repeated spontaneous abortions and infertility with unknown mechanisms related to sex. We describe an inversion of human chromosome and its clinical correlation with human genetic disease.

• Interdisciplinary Bio Central
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• 제6권4호
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• pp.2.1-2.7
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• 2014

Sexual dimorphism in intelligence suggests that this phenotype is a sexually selected trait. This view is supported by an overrepresentation (compared to the autosomal genome) of genes affecting cognition on the X chromosome. The aim of this study is to test the hypothesis that sexual selection can explain sex and country-level differences in performance on tests of fluid intelligence. Nationally representative samples from N = 44 countries were obtained from the Programme for International Student Assessment (PISA) Creative Problem Solving (CPS), which evaluates the core of intelligence, that is novel problem solving ability. Sexual selection has the double effect of increasing the prevalence of a favored phenotype and reducing genetic variation in sexually selected traits. Matching these predictions from evolutionary theory, the average country fluid intelligence is positively correlated to sexual dimorphism after partialling out per capita GDP and the latter in turn is inversely correlated to variance in intelligence scores within populations. Males have a higher variance than females but there is a negative correlation between male-female difference in variance and sexual dimorphism in intelligence, suggesting that selection reduces variance more in the selected sex. Average country male height is negatively correlated to sexual dimorphism in intelligence, a fact that supports the notion of a trade-off between physical and intellectual competition in the context of access to females. The results of this study, if replicated, imply that genome-wide association studies of cognition may benefit from a focus on sex chromosomes, which so far have been neglected. Another implication of this study is that intelligence has continued to evolve after different human populations migrated out of Africa and possibly up to the 19th century, as suggested by the substantial variability in sex differences even between neighbouring countries.

• Journal of Oral Medicine and Pain
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• 제33권1호
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• pp.59-66
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• 2008

사람 Y염색체상에 존재하는 RPS4Y(Ribosomal Protein S4Y) 유전자는 성별감정시 유용한 유전자로 규명되어 유전질환의 조기 발견이나 예방 및 태아의 성별판정 등에 응용되고 있다. 신원이 불분명한 사체에서 성별감정시, 기존의 성별감정에 이용되고 있는 다른 유전자와 함께 RPS4Y 유전자를 검색함으로써 성별감정의 신뢰도를 높힐 수 있을 것으로 사료된다. 또한 사체의 손상이 심할 때 유전자를 이용한 개인식별은 제한을 받게 된다. 이때 치아는 인체의 기관 중 가장 견고한 구조로 구성되어 있어 외부 환경에 대한 물리적, 화학적 저항성이 높아 법의치과학적 개인식별에 널리 이용되므로, 본 연구에서는 사람 치아에서 중합효소연쇄반응법을 이용한 RPS4Y유전자를 검출하여 법의학적 성별감정에 응용하고자 하였다. 남녀 각각 10개의 치아에서 치수와 상아질을 분리한 후 DNA를 추출하여 중합효소연쇄반응을 시행하였다. RPS4Y 유전자를 검출한 결과, 남자에게서만 특이적으로 유전자가 검출되었으며, 이는 사람 치아에서 RPS4Y 유전자를 이용한 성별감정이 법의학적 개인식별의 성별감정 실무에 있어서 다른 유전자와 함께 유용하게 사용될 수 있을 것으로 사료된다.

• Clinical and Experimental Reproductive Medicine
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• 제26권3호
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• pp.467-474
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• 1999

Objectives: Cytogenetic investigations were carried out on 770 women with primary (n=560) and secondary amenorrhea (n=210) to determine the frequency of chromosomal or genetic causes of amenorrhea. Materials and Methods: In 770 women with primary amenorrhea (n=560) and secondary amenorrhea (n=210), chromosomal analysis were performed. Results: 1) The most prevalent age group is 16-20 years of age group with primary amenorrhea and 26-30 years of age group with secondary amenorrhea. 2) Out of 560 cases of primary amenorrhea, 343 cases (61.3%) had the normal chromosome constitution and 217 cases (38.7%) had the abnormal chromosome constitution including 46,XY. 3) In 217 cases of abnormal chromosome of primary amenorrhea, 57 cases (26.3%) had 45,X and 34 cases (15.8%) had the 46,XY, 24 cases (11.0%) had 45,X/46,X,i (Xq), 23 cases (10.6%) had 45,X/46,X,+mar and 14 cases (6.6%) had 45,X/46,XY. 4) Out of 210 cases of secondary amenorrhea, 181 cases (86.2%) had the normal chromosome constitution and 29 cases (13.8%) had the abnormal chromosome. 5) In 29 cases of abnormal chromosome of secondary amenorrhea, 7 cases (24.1%) had 45,X/46, X,i (Xq), 4 cases (13.8%) had 45,X/46,XX. Conclusion: High percentage of chromosomal abnormalities was diagnosed in primary amenorrhea and most of them were sex chromosome anomalies. In secondary amenorrhea, the prevalence was lower than primary amenorrhea, so a preselection of patients with secondary amenorrhea for cytogenetic investigations seems to be necessary.

• Asian-Australasian Journal of Animal Sciences
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• 제14권11호
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• pp.1647-1654
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• 2001

In poultry, the selection against broodiness took up presumably naturally occurred mutations in the White Leghorn breed and led to an almost complete loss of the avian form of parental behaviour (incubation of eggs). Early studies on the genetics of broodiness demonstrated that the trait is polygenic with a major sex-linked effect. The reassessment of the studies on putative genes located on the Z chromosome, which are implicated in the control of broodiness, has resulted in the denial of this hypothesis. The recent experiments bear witness that incubation behaviour in chickens is not controlled by a major gene (or genes) on Z chromosome and there must, therefore, be major autosomal genes contributing to the expression of the behaviour. If a broody gene does exist on the Z chromosome it is one of at least three genes including two dominant autosomal genes, one causing and other one inhibiting incubation behaviour, with probably equal influence.

• Fisheries and Aquatic Sciences
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• 제10권1호
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• pp.24-29
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• 2007

Our objective was to clarify the cytogenetic characteristics, including karyotypes, cellular DNA content, and nuclear size of erythrocytes, of black plaice Pleuronectes obscurus, dotted gizzard shad Konosirus punctatus, and perch sculpin Pseudoblennius percoides, collected from the coastal areas of Jo Island, Busan, Korea. Karyotypes of P. obscurus and K. punctatus both had a diploid number of 48 and a fundamental number (FN) of 48, with a chromosome formula of 48T. The karyotype of p. percoides had a diploid number of 46 and FN of 56, with a chromosome formula of 10SM +36T. No sex-associated heteromorphic pairs were detected for any species. The variation in DNA values (P. obscurus=1.15 pg/nucleus, K. punctatus=1.56pg/nucleus, P. percoides=1.11 pg/nucleus) was positively related to variation in chromosome FN.

• 한국산림과학회지
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• 제84권2호
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• pp.131-144
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• 1995

자웅이주(雌雄異株)이고, 단일종(單一種)(monotype)이며, 경제적(經濟的), 기능적(機能的)으로 유용(有用)한 은행(銀杏)나무의 염색체(染色體)의 구조(構造)와 자웅(雌雄) 성결정(性決定) 염색체(染色體)를 판별(判別)하기 위해서 은행(銀杏)나무(G. biloba)와 추상은행(銀杏)나무(G. biloba var. fastigiata)를 재료(材料)로 하여 전국(全國)에서 7개(個) 지역(地域), 26개체(個體)의 근단(根端)(root tip)을 시료(試料)로 염색체(染色體)를 관찰(觀察) 조사(調査)한 결과(結果)는 다음과 같다. 체세포(體細胞) 염색체(染色體)의 기본수(基本數)는 2n=24, 염색체(染色體)의 상대적(相對的) 길이는 긴 것이 $14.88{\sim}11.17{\mu}m$, 짧은 것이 $8.11{\sim}6.24{\mu}m$, 12쌍(雙)의 염색체(染色體) set는 1쌍(雙)의 m형(型)이며 긴 염색체(染色體)와 비교적(比較的) 짧으며 sm 또는 st형(型) 11쌍(雙)으로 구성(構成)되고, 짧은 염색체(染色體) group은 연속적(連續的) 변이(變異)를 한다. 제1(第一) 긴 염색체쌍(染色體雙)의 short arm에 Satellite가 존재(存在)하고 7번 또는 8번째(sm 또는 st형(型)), 염색체쌍(染色體雙)의 한 쪽 또는 양 쪽 long arm에 Satellite가 존재(存在)하거나, 또는 제일(第一) 짧은 st형(型) 염색체쌍(染色體雙) 양 쪽 또는 한 쪽 long arm에 Satellite가 존재(存在)하기도 한다. 은행(銀杏)나무(G. biloba)의 제일(第一) 긴 염색체쌍(染色體雙)에 있는 Satellite는 가끔 2중(二重) Satellite복립부수체(複粒附髓體)인 것이 관찰(觀察)되었으나, 추상은행(銀杏)나무(G. biloba var. fastigiata)에서는 이중(二重) Satellite가 관찰(觀察)되지 않았다. 행형식(核型式) $2n=24=2^{2s}A^m+2B^{st\;or\;sm}+2C^{st}+2D^{st}+2E^{st}+2F^{st\;or\;sm}+2G^{sm}+2^{2s}H^{sm}\;or\;(^{1s}H^{sm}+H^{sm})+2I^{st}+2J^{st}+2K^{st}+2^{2s}L^{st}\;or\;(^{1s}L^{st}+L^{st})$ 염색체(染色體) 구조상(構造上)으로는 암나무와 숫나무의 성염색체(性染色體) 구별(區別)이 확실하지는 않지만, 숫나무의 염색체(染色體)에서는 제일(第一) 긴 염색체쌍(染色體雙)의 한 쪽 염색체(染色體) short arm에 이중(二重) Satellite가 존재(存在)하나, 암나무에서는 존재(存在)하지 않는다. 대체적으로 작은 염색체(染色體) group에서 Satellite 염색체(染色體)가 2개(個) 있는 것은 숫나무보다 암나무에서 더 많이 관찰(觀察)되었다. 추상은행(銀杏)나무(G. biloba var. fastigiata)에서는 작은 염색체(染色體) group에서, 숫나무에서는 1개(個)의 Satellite chromosome만 관찰(觀察)되었다.