• Korean Journal of Poultry Science
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• v.46 no.4
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• pp.287-296
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• 2019

Avian sex determination system involves the male ZZ and female ZW chromosomes. However, very few studies are reported the expression, functional role and importance of genes on the W chromosome because of its small and highly heterochromatic genomic regions. Recent studies demonstrated that the W chromosome may have critical roles in physiology, sex determination and subsequent sexual differentiation in chickens. Therefore, gene annotation, including describing the expression and function of genes in the chicken W chromosome, is needed. In this study, we have searched the W chromosome of chickens and selected a total of 36 genes to evaluated their specific expression in the testis and ovary at various developmental stages such as embryonic day 6 (E6), hatch and adult. Interestingly, out of 36 genes in chicken W chromosome, we have found seven female-specific expression at E6.5 day, indicating that they are functionally related to female chicken gonadal differentiation. In addition, we have identified the stage specific gene expression from the sex specific genes. Furthermore, we analyzed the relative location of genes in the chicken W chromosome. Collectively, these results will contribute molecular insights into the sexual determination, differentiation and female development based on the W chromosome.

• Korean Journal of Ichthyology
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• v.8 no.2
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• pp.68-73
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• 1996

This study was carried out to obtain the basic information on morphological and chromosomal charateristics in the three species of Chinese carps (grass carp; Ctenopharyngodon idellua, bighead carp; Aristichthys nobilis, and silver carp; Hypophthalmichthys molitrix) introduced to Korea from China. C. idellua was differ from A. nobilis and H. molitrix by the number of gill rakers, scales, fin rays, body proportion. A. nobilis and H. molitrix were similar in having ventral keel and many scale number, but H. molitrix was differ from A. nobilis by the connected gill rakers and body color pattern. Diploid chromosome and arm number (fundamental number, NF) of the three species were all the same to 2n=48 and NF=84. Diploid chromosome numbers in the three species are consisted of 10 pairs of metacentric chromosome, 8 pairs of submetacentric chromosome and 6 pairs of acro and/ or telocentric chromosome. Morphological and karyological relationship of the three Chinese carps are discussed.

• Environmental Mutagens and Carcinogens
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• v.17 no.1
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• pp.12-16
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• 1997

Chromosome rearrangement induced by bleomycin were identified by fluorescence in situ hybridization with probe for chromosome 4. The frequency of color junctions, translocations, dicentric and acenttic fragments increased with bleomycin dose. Different types of balanced translocation and dicentric were scored and compared. The frequency of cells exhibiting multiple aberration was higher compared to that of cells exposed to Gamma radiation suggesting that effect of bleomycin might be similar to that of high LET radiation.

• The Korean Journal of Malacology
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• v.13 no.2
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• pp.125-130
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• 1997

The mitotic and meiotic chromosomes of Succineidae snail one species, Oxyloma hirasei(Pilsbry), were investigated by mians of air-drying mithod. The diploid chromosome numbers were n=18, 2n=36. Chromosome complements of this species consist of seven pairs of metacentrics and 11 pairs of submetacentric chromosomes. Spermatogonial metaphase chromosomes range in length from 4.80${\mu}{\textrm}{m}$ for the largest pair to 1.44${\mu}{\textrm}{m}$ for the smallest pair.

• The Korean Journal of Malacology
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• v.4 no.1
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• pp.50-54
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• 1988

The chromosome of Anodota woodiana in the Lake Uiam was analysed as using air drying technique of spermatogonial tissue to obtain mitotic and meiotic chromosomes. The chromosome chcle did mot differ, in general, from that found in other bivalves. Chromosome of this species consisted of metacentrics and submetacentrics. The longest chromosome was 2.1 ${\mu}{\textrm}{m}$ and the shortest was about 1.4 ${\mu}{\textrm}{m}$ in length.

• Clinical and Experimental Pediatrics
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• v.55 no.10
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• pp.393-396
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• 2012

Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case of a 17-month-old girl with abnormal skin pigmentation, delayed development, facial dysmorphism, and failure to thrive with the 47,XX,+14/46,XX chromosome complement.

• Journal of Radiation Protection and Research
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• v.29 no.4
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• pp.243-249
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• 2004

The cytokinesis-block micronucleus (CBMN) assay in combination with FISH technique using chromosome-specific centromeric probes for chromosome 1 and 4 was performed in mitogen stimulated human lymphocytes which were exposed to x-radiation to identify different sensitivity of chromosomes to the induction of micronuclei(MN) and aneuploidy by radiation. The frequencies of micronucleated cytokinesis-blocked(MNCB) cells and MN in binucleated lymphocytes(BN) increased with the increase in radiation dose. A significant induction of aneuploidy of chromosome 1 and 4 were found. The frequency of aneuploidy of chromosome 1 and 4 in the control were 9 per 2,000 BN cells and this increased to 47 and 71 following irradiation at a dose of 1 and 2 Gy, respectively. The induction of aneuploidy of chromosome 1 was higher than that of chromosome 4. The frequency of aneuploid BN cells with MN exhibiting positive centromere signal for either chromosome 1 and/or 4 increased in a dose dependent manner, and that for chromosome 1 is higher than that for chromosome 4. Among the total induced MN in irradiated lymphocytes, smaller proportion of MN exhibit centromeric signal of chromosome indicating that radiation-induced MN are mainly originated from chromosomal breakage rather than chromosomal non-disjunction. These results suggest that x-radiation can induce aneuploidy and supports the finding that chromosome vary in their sensitivity to aneuploidy induction by x-irradiation.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.80-83
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• 2007

A 36-year-old pregnant woman was referred for amniocentesis at 19.5 weeks gestation because of advanced maternal age and evidence of increased risk for Edward syndrome in the maternal serum screening test. Cytogenetic analysis of the cultured amniotic fluid cells revealed mosaicism for ring chromosome 11: 46,XX,r(11)[65]/ 45,XX,-11[16]/ 46,XX [34]. Parental karyotypes were normal. A targeted ultrasound showed intrauterine grow th restriction (IUGR). Cordocentesis was performed to characterize the ring chromosome and to rule out tissue specific mosaicism. Karyotype was confirmed as 46,XX,r(11) (p15.5q24.2)[229]/45,XX,-11[15]. And a few new form of ring w ere detected in this culture. The deletion of subtelomeric regions in the ring chromosome were detected by fluorescent in situ hybridization (FISH). The pregnancy was terminated. The fetal autopsy showed a growth-retarded female fetus with rocker bottom feet. We report a case of prenatally detected a de novo ring chromosome 11.

• Journal of Genetic Medicine
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• v.3 no.1
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• pp.5-10
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• 1999

This is a case report of 46,XY female phenotype (46,XY karyotype, no pubic hair, blind vagina and absence of uterus)in an 18-year-old patient. To confirm whether a Y chromosome has a structural abnormality, fluorescent in situ hybridization (FISH) with the chromosome X/Y cocktail probe was simultaneously performed, and the six loci [PABY, RPS4Y(sy16, sy17), ZFY, DYS14] on the short arm, one locus (DYZ3) on the centromere and one locus (DYZ1) on the long arm were amplified by polymerase chain reaction (PCR). The probes used FISH hybridized to centromere of the X chromosome and heterochromatin region (Yq12) of the Y chromosome, and all PCR related Y chromosome showed positive band like normal male. From the results obtained, it seemed that the Y chromosome from the 46,XY female was structurely normal. Especially, the SRY gene has been equated with the mammalian testis-determining factor, and absence or point mutation in the SRY gene causes XY female. To detect the point mutations of SRY sequences, single-strand conformation polymorphism (SSCP) assay was used. Our results confirm that this patient has no mutation in the SRY gene on the Y chromosome.

• Toxicological Research
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• v.19 no.1
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• pp.29-31
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• 2003

It has been reported that the genetic variations in the Y chromosome has influence the blood pressure in some Caucasian male populations, but the effect in non-Caucasian population is unclear. In the present study, we examined the relationship between blood pressure and a HindIII RFLP of Y chromosome in 152 unrelated male individuals of ethnically homogeneous Korean origin. There were no significant differences in systolic and diastolic blood pressures between genotype groups, respectively. However, the frequency of A genotype in Korean population was much higher than those of Caucasian populations (P＜0.05). Therefore, the results of this study will con-tribute the better understanding the genetic characteristics of Y chromosome in Korean population.