Though there is a long-standing debate on the faculty 'inbreeding' of Korean medical schools, one knows little about what and how is the status. Based on [Current Educational Status of Medical Schools] by the Korean Council of Deans of Medical College, the basic data on the medical professors are presented. By May 2000, the total of 7,511 professors were in 41 medical schools. Among them, 6,963 (92.7%) were M.D. More than 90% of M.D. professors of 9 medical schools(19.5%) were their own graduates, while those of 15 medical schools(36.6%) do not have the majority of graduates and they are relatively new ones. Many medical professors(3,114, 44.7%) works at the medical schools that they graduated. However, eight schools established before 1955 have their own graduates 40.8% of M.D. professors, and 14 schools established from 1965 to 1982 have 57.7%. Korean medical schools have trend that they have chosen their own graduates as medical professors. And the relatively new schools follows the trend.
Educational Status ; Humans ; Inbreeding* ; Schools, Medical*

Allelic differences in A and B mating-type loci are a prerequisite for the progression of mating in the genus Pleurotus eryngii; thus, the crossing is hampered by this biological barrier in inbreeding. Molecular markers linked to mating types of P. eryngii KNR2312 were investigated with randomly amplified polymorphic DNA to enhance crossing efficiency. An A4-linked sequence was identified and used to find the adjacent genomic region with the entire motif of the A locus from a contig sequenced by PacBio. The sequence-characterized amplified region marker 7-2299 distinguished A4 mating-type monokaryons from KNR2312 and other strains. A BLAST search of flanked sequences revealed that the A4 locus had a general feature consisting of the putative HD1 and HD2 genes. Both putative HD transcription factors contain a homeodomain sequence and a nuclear localization sequence; however, valid dimerization motifs were found only in the HD1 protein. The ACAAT motif, which was reported to have relevance to sex determination, was found in the intergenic region. The SCAR marker could be applicable in the classification of mating types in the P. eryngii breeding program, and the A4 locus could be the basis for a multi-allele detection marker.
Breeding ; Cicatrix ; Classification ; Dimerization ; DNA ; DNA, Intergenic ; Inbreeding ; Pleurotus ; Transcription Factors

PURPOSE: This article is prepared in order to know how many professors are in our medical colleges according to their specialties and how is the "inbreeding", or status of employment to the college where he/she graduated. METHODS: Based on [Current Educational Status of Medical Schools] put out by the Korean Council of Deans of Medical College, in May 2002, we had 7, 867 professors in 41 medical schools. RESULTS: Among them, 7, 280 (92.5%) were medical doctors (MD). There had been 1, 063 new professors since May 1998. The biggest one has 808 and the smallest has 46 professors. Although there was a small increase in the number of professors in most specialties, dermatology, plastic surgery, ophthalmology, ENT, and psychiatry showed a small decrease. This is because many doctors in these specialties had opened private clinics after the 2002 Dispute on Health Insurance System. The MD faculties at 8 medical schools, which were established before 1965, were comprised of 83.8% of their own graduates, while those at 14 medical schools (established between 1965 - 1982) had 37.3% of their own graduates. CONCLUSION: This "inbreeding" of faculty members was prominent in older schools though this tendency could also be seen in younger schools. Early exposure to and communication with other institutes or facilitates the reduction of the "inbreeding" phenomenon.
Academies and Institutes ; Dermatology ; Dissent and Disputes ; Educational Status ; Employment ; Humans ; Inbreeding* ; Insurance, Health ; Ophthalmology ; Schools, Medical* ; Surgery, Plastic

GENDISCAN study (Gene Discovery for Complex traits in Asian population of Northeast area) was designed to incorporate methodologies which enhance the power to identify genetic variations underlying complex disorders. Use of population isolates as the target population is a unique feather of this study. However, population isolates may have hidden inbreeding structures which can affect the validity of the study. To understand how this issue may affect results of GENDISCAN, we estimated inbreeding coefficients in two study populations in Mongolia. We analyzed the status of Hardy-Weinberg Equilibrium (HWE), polymorphism information contents (PIC), heterozygosity, allelic diversity, and inbreeding coefficients, using 317 and 1,044 STR (short tandem repeat) markers in Orkhontuul and Dashbalbar populations. HWE assumptions were generally met in most markers (88.6% and 94.2% respectively), and single marker PIC ranged between 0.2 and 0.9. Inbreeding coefficients were estimated to be 0.0023 and 0.0021, which are small enough to assure that conventional genetic analysis would work without any specific modification. We concluded that the population isolates used in GENDISCAN study would not present significant inflation of type I errors from inbreeding effects in its gene discovery analysis.
Animals ; Asian Continental Ancestry Group ; Feathers ; Genetic Association Studies ; Genetic Variation ; Health Services Needs and Demand ; Humans ; Inbreeding ; Inflation, Economic ; Mongolia

GENDISCAN study (Gene Discovery for Complex traits in Asian population of Northeast area) was designed to incorporate methodologies which enhance the power to identify genetic variations underlying complex disorders. Use of population isolates as the target population is a unique feather of this study. However, population isolates may have hidden inbreeding structures which can affect the validity of the study. To understand how this issue may affect results of GENDISCAN, we estimated inbreeding coefficients in two study populations in Mongolia. We analyzed the status of Hardy-Weinberg Equilibrium (HWE), polymorphism information contents (PIC), heterozygosity, allelic diversity, and inbreeding coefficients, using 317 and 1,044 STR (short tandem repeat) markers in Orkhontuul and Dashbalbar populations. HWE assumptions were generally met in most markers (88.6% and 94.2% respectively), and single marker PIC ranged between 0.2 and 0.9. Inbreeding coefficients were estimated to be 0.0023 and 0.0021, which are small enough to assure that conventional genetic analysis would work without any specific modification. We concluded that the population isolates used in GENDISCAN study would not present significant inflation of type I errors from inbreeding effects in its gene discovery analysis.
Animals ; Asian Continental Ancestry Group ; Feathers ; Genetic Association Studies ; Genetic Variation ; Health Services Needs and Demand ; Humans ; Inbreeding ; Inflation, Economic ; Mongolia

The application of new biotechnology has developed with tremendous speed, and DNA technology has created ethical problems related human right, such as early diagnosis, mass screening, prenatal diagnosis, carrier detection of genetic diseases, as well as prediction of genetic susceptibility to common diseases, which become more and more important on our social lives, using genetic counselling businesses, together with such preventive measure as prohibition of inbreeding and promotion of family planing in eugenic law, have been mostly effective. Recently medical assisted procreation, such as artificial conception has developed rapidly, and most recently, cloning embryo experiments reported, these application are still in early stages, and followed ethical debates in this new reproductive technologies. The most vexing ethical issues involve techniques with less obvious benefit to society and greater potential for abuse, therefore, this paper discussed the dangers and ethical problems related with human right such as the development of genome plane, employment, insurance, crime detection by DNA fingerprint, medical diagnosis and treatment by biotechnology, and the manipulation of gene also discussed.
Biotechnology ; Clone Cells ; Cloning, Organism ; Commerce ; Crime ; Diagnosis ; DNA ; DNA Fingerprinting ; Early Diagnosis ; Embryonic Structures ; Employment ; Ethics ; Fertilization ; Genetic Predisposition to Disease ; Genome ; Human Rights* ; Humans* ; Inbreeding ; Insurance ; Jurisprudence ; Mass Screening ; Prenatal Diagnosis ; Reproductive Techniques

OBJECTIVE: To analyze gene variants in a Chinese pedigree with oculocutaneous albinism (OCA). METHODS: Gene sequencing of the proband and his parents was performed using chip capture high-throughput sequencing and Sanger sequencing techniques, and PolyPhen-2, SIFT, MutationTaster, and FATHMM software were used to predict the function of new variants. At the same time,the pedigree and variant genes of 4 albinism patients from this pedigree were analyzed. RESULTS: Sequencing results showed that the proband's TYR gene (NM_000372) has c.230G>A (p.Arg77Gln) and c.120_121insG (p.Asp42GlyfsTer35) compound heterozygous variants. The proband's father carries c.230G>A heterozygous variant, and the mother carries c.120_121insG heterozygous variant, indicating that the proband's two variants are from his father and mother. The former is a known missense variant, which can cause abnormal or loss of the original function of the protein polypeptide chain. The latter c.120_121insG(p.Asp42GlyfsTer35) is an unreported frameshift variant of the TYR gene subregion (EX1; CDS1). PolyPhen-2, SIFT, MutationTaster and FATHMM predictions are all prompted as "harmful variants". This variant caused the amino acid encoded protein to terminate prematurely, producing a truncated protein, which eventually formed a 76-amino acid short-type TYR protein instead of the 529-amino acid wild-type TYR protein. Through the pedigree analysis, the four patients in the pedigree are all of the same type of compound heterozygous variants, and the disease-causing genes are all from the patient's parents. They belong to a special form of consanguineous marriage within 5 generations. CONCLUSION The compound heterozygous variants of c.230G>A (p.Arg77Gln) and c.120_121insG (p.Asp42GlyfsTer35) of the TYR gene may underlie the disease in this pedigree. The gene sequencing results enrich the variant spectrum of the TYR gene, and has facilitated molecular diagnosis for the patient.
Albinism, Oculocutaneous/genetics* ; Consanguinity ; Heterozygote ; Humans ; Mutation ; Pedigree

Multiple neurofibromatosis is known to be a genetic disease with the autosomal dominant inheritance pattern. In clinical practice, however, we can hardly ever find a case in which the autosomal dominant inheritance is demonstrable, because sporadic mutation is believed to cause about 50 % of the observed rnultiple neurofibromatosis cases, and because such patients show reduced fertility. The authors observed a family case in which the typical autosomal dominant inheritance could be demonstrated. Among 17 consanguinities of the 3 generations studied, 12 had developed multiple neurofibrornatosis. The presumed reason for the high incidence of the disease in the family studied is 2 fold: 1) The autosomal dominant gene responsible for the disease is highly penetrable. 2) The mutant gene responsible for the disease, for some unexplained reason, was transmitted from patient No. 1 to a.ll of her offsprings, instead of to only half of her offsprings, as would be expected. Multiple neurofibromatosis is known to be a genetic disease with the autosomal dominant inheritance pattern. In clinical practice, however, we can hardly ever find a case in which the autosomal dominant inheritance is demonstrable, because sporadic mutation is believed to cause about 50 % of the observed rnultiple neurofibromatosis cases, and because such patients show reduced fertility. The authors observed a family case in which the typical autosomal dominant inheritance could be demonstrated. Among 17 consanguinities of the 3 generations studied, 12 had developed multiple neurofibrornatosis. The presumed reason for the high incidence of the disease in the family studied is 2 fold: 1) The autosomal dominant gene responsible for the disease is highly penetrable. 2) The mutant gene responsible for the disease, for some unexplained reason, was transmitted from patient No. 1 to a.ll of her offsprings, instead of to only half of her offsprings, as would be expected. Multiple neurofibromatosis is known to be a genetic disease with the autosomal dominant inheritance pattern. In clinical practice, however, we can hardly ever find a case in which the autosomal dominant inheritance is demonstrable, because sporadic mutation is believed to cause about 50 % of the observed rnultiple neurofibromatosis cases, and because such patients show reduced fertility. The authors observed a family case in which the typical autosomal dominant inheritance could be demonstrated. Among 17 consanguinities of the 3 generations studied, 12 had developed multiple neurofibrornatosis. The presumed reason for the high incidence of the disease in the family studied is 2 fold: 1) The autosomal dominant gene responsible for the disease is highly penetrable. 2) The mutant gene responsible for the disease, for some unexplained reason, was transmitted from patient No. 1 to a.ll of her offsprings, instead of to only half of her offsprings, as would be expected.
Consanguinity ; Family Characteristics ; Fertility ; Genes, Dominant ; Humans ; Incidence ; Inheritance Patterns ; Neurofibromatoses* ; Neurofibromatosis 1 ; Wills

This is a rare typical case of collodion baby. The patient is a one-day-old newborn male who has been suffering from the tightly collodion or parchment-like coverings over the entire skin surface with ectropion, eclabion, fixed semiflexion position of the limbs and fissures on the flexual area. The family history was noncontributory with no consanguinity. This patient was desquamated from collodion-like membrane and returned to normal looking skin from the seventh day of life to one month. Diagnosis of collodion baby was established by clinical features and histopathological study. A brief review of literature was made.
Collodion* ; Consanguinity ; Diagnosis ; Ectropion ; Extremities ; Humans ; Infant, Newborn ; Male ; Membranes ; Skin

Acromelanosis progressiva is a peculiar progressive pigmentary disorder characterized by intensely dark and sharply demarcated hyperpigmentation over the dorsa of fingers and toes, and the pigmentation rapidly spread proximally. A 19-year-old female had sharply demarcated symmetric dark aroarn macules on the dorsa of her hands and feet, forearms, lower legs, face and neck. These pigmentations at first appeared at the age of 5 on the dorsa of her fingers and toes, thereafter these pigmertatons spread progressively to the proximal portion of her body. Histologically, a proliferation of mela biocyte at the epidermal-dermal junction was seen, associated with mild hyperkeratosis. She was othervise normal on physical examination and had no family historv of consanguinity.
Consanguinity ; Female ; Fingers ; Foot ; Forearm ; Hand ; Humans ; Hyperpigmentation ; Leg ; Neck ; Physical Examination ; Pigmentation ; Toes ; Young Adult