1.Family tree and restoration method of hereditary opalescent dentin: a case report.
Pin ZHOU ; Zhi-song WANG ; Hong-zhi XU ; Yang-fei LI
West China Journal of Stomatology 2009;27(5):574-576
Hereditary opalescent dentin is a rare autosomal dominant inherited disease of dentin development. A case of hereditary opalescent dentin was reported, and the pathogenesis, family tree and restoration methods were reviewed.
Dentinogenesis Imperfecta
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Humans
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Pedigree
3.Acne rosacea-a pedigree with ten cases.
Rushan XIA ; Lei CAO ; Ling FANG ; Huizi XIONG ; Lijia YANG
Chinese Journal of Medical Genetics 2019;36(7):747-747
4.Study Methods to Find Disease Genes in Complex Diseases.
Young Ho LEE ; Jong Dae JI ; Gwan Gyu SONG
The Journal of the Korean Rheumatism Association 2006;13(4):265-271
Most common diseases are complex genetic traits. Identifying the genes that underlie the variation in the diseases has been challenging. Two major approaches have been used to map genetic variants that influence disease risk: linkage analysis and association study. Linkage analysis tests for the co-segregation of a marker and disease phenotype within a pedigree, whereas association study tests for differences in marker allele frequencies between patients and a control population. Linkage analysis is applied without any prior knowledge of the biological basis of the disease. In association study, genes with a known function with the potential to influence the disease phenotype are investigated for a direct role in disease. No single method is sufficient. A multi-strategy approach to the mapping of complex diseases is required. We review the different types of genetic studies to find genes for complex genetic traits.
Gene Frequency
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Humans
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Pedigree
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Phenotype
5.Tuberous sclerosis-a pedigree with seven cases.
Huafang JIA ; Yue LIU ; Fengyuan CHE
Chinese Journal of Medical Genetics 2019;36(7):745-746
6.Juvenile onset open-angle glaucoma in a large family in Cebu, Philippines
Justine May R. Torregosa ; Christine Siguan-Bell
Philippine Journal of Ophthalmology 2022;47(2):92-96
Objective:
This study described the clinical profile of a four-generation Cebuano family with juvenile-onset
open-angle glaucoma (JOAG).
Methods:
Thisis a case series conducted in the out-patient department of Cebu Velez General Hospital. Thirtyeight (38) members in a four-generation family from the northern part of Cebu province were investigated.
General medical and ophthalmologic histories were taken. Complete ophthalmologic examination was done.
Results:
Forty-two (42%) percent of participants examined had increased intraocular pressures (IOP); 15 were
diagnosed with JOAG, one had ocular hypertension. There were more females than males affected. Mean age
when symptoms were first noted was 14.56 ±6.63 years and mean age at diagnosis was 16.3 ±7.84 years. The
most common initial symptom was rainbow or halos around lights (87.5%). Mean refraction was -3.09 ±2.54
diopters for both eyes. Mean IOP on examination was 24.56 ± 20.17 mmHg. Gonioscopy showed open angles
with flat iris plane. All affected participants underwent medical treatment and 69% needed surgical
interventions.
Conclusion
This family demonstrated the typical JOAG phenotype consisting of early age of onset, strong
family history with an autosomal dominant pattern of inheritance, myopia, open angles, and increased IOP
refractory to medical treatment.
Glaucoma
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Ocular Hypertension
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Phenotype
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Pedigree
7.Two Cases of Familial Asymmetric Septal Hypertrophy.
Byoung Ick PARK ; Byung Heui OH ; Sam Yong KIM ; Hyung Joon YOO ; Chong Hun PARK ; Jung Don SEO ; Young Woo LEE
Korean Circulation Journal 1979;9(1):47-57
Two cases of familial asymmetric septal hypertrophy diagnosed by myocardial biopsy and clinical studies are reported with literature reviewed. Myocardial biopsy was done at right ventricular septal wall, and pedigree of family members was observed clinically and examined by noninvasive methods including chest X-ray and echocardiography.
Biopsy
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Cardiomyopathy, Hypertrophic*
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Echocardiography
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Humans
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Pedigree
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Thorax
8.A Case of Familial IgA Nephropathy.
Yu Jin KIM ; Wun Kon KIM ; Shin Ae YOON ; Jin Seok LEE ; Tae Sun HA
Journal of the Korean Society of Pediatric Nephrology 2011;15(1):81-85
IgA nephropathy is the most common form of primary glomerulonephritis and chronic glomerular disease worldwide including Korea. Familial gathering of IgA nephropathy suggests that genetic factors contribute to the development of this disease. Although there have been many reports on familial IgA nephropathy with genetic analysis and their pedigrees, there has been few reports in Korea. We reported a partial familial IgA nephropathy pedigree with a brief review of the literatures.
Glomerulonephritis
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Glomerulonephritis, IGA
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Immunoglobulin A
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Korea
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Pedigree
9.Mapping of pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris.
Zheng-mao HU ; Zhi-guo XIE ; Ling-qian WU ; De-sheng LIANG ; Hai-yan ZHU ; Qian PAN ; Zhi-ga LONG ; He-ping DAI ; Jia-hui XIA ; Kun XIA
Acta Academiae Medicinae Sinicae 2007;29(3):302-306
OBJECTIVETo elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris (IV).
METHODSLinkage analysis was performed by using STR markers in chromosome 1, and mutation detection was used to screen for FLG gene mutation.
RESULTSA maximum two-point Lod score of 3.46 (theta=0) was obtained at D1S2696. Haplotype analysis placed the critical region in a 15-CM interval defined by D1S2726 and D1S305, but no mutation of FLG was found in our IV patients.
CONCLUSIONThe pathologic gene of the IV family locates near D1S2696, and the FLG gene may not ruled out from the pathologic genes.
Female ; Humans ; Ichthyosis Vulgaris ; genetics ; Male ; Pedigree
10.Four-generation postaxial polydactyly in a Chinese family.
Feng XU ; Jing-yan XIA ; Jian-guo XU
Chinese Medical Journal 2007;120(11):1027-1028