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1.
Genomics ; 111(4): 696-699, 2019 07.
Artículo en Inglés | MEDLINE | ID: mdl-29665417

RESUMEN

Glaucoma is the second leading cause of blindness after cataract and is heterogeneous in nature. Employing a genetic approach for the detection of the diseased condition provides an advantage that the gene responsible for the disease can be identified by genetic test. The availability of predictive tests based on the published literature would provide a mechanism for early detection and treatment. The genotype and phenotype information could be a valuable source for predicting the risk of the disease. To this end, a web server has been developed, based on the genotype and phenotype of myocilin mutation, which were identified by familial linkage analysis and case studies. The proposed web server provides clinical data and severity index for a given mutation. The server has several useful options to help clinicians and researchers to identify individuals at a risk of developing the disease. Glaucoma Pred server is available at http://bioserver1.physics.iisc.ac.in/myocilin.


Asunto(s)
Proteínas del Citoesqueleto/genética , Proteínas del Ojo/genética , Glaucoma de Ángulo Abierto/genética , Glicoproteínas/genética , Fenotipo , Polimorfismo Genético , Programas Informáticos , Genotipo , Glaucoma de Ángulo Abierto/epidemiología , Glaucoma de Ángulo Abierto/patología , Humanos
2.
Ultrasound Obstet Gynecol ; 15(2): 131-7, 2000 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-10775996

RESUMEN

OBJECTIVE: To determine whether racial differences affect the relationship between the fetal femur diaphysis length and the neonatal crown-heel length. DESIGN: A prospective study in a teaching hospital with a multiracial population. SUBJECTS: Four hundred and fifty pregnant women (150 Malays, 150 Chinese and 150 Indians) who delivered live infants. METHODS: Ultrasound scan measurement of the fetal femur diaphysis length was carried out within 48 h of delivery in all cases. The relationship between the neonatal crown-heel length and the femur diaphysis length was obtained by regression using the method of least squares. Dummy or indicator variables were used to determine the effect of race on the relationship. RESULTS: The relationship between the neonatal crown-heel length and the femur diaphysis length in all three races was well described by a linear model but a quadratic model described the relationship better. There was no significant difference in relationship of the neonatal crown-heel length and the femur diaphysis length between the Malay and Chinese populations, but the relationship in the Indian population was significantly different was from both the Chinese and Malay. For a given femur diaphysis length, the crown-heel length of the Indian population was found on average to be 1.1 cm shorter than the crown-heel length of the Malay and Chinese populations. CONCLUSION: Differences in fetal body proportions exist between some races. The longer femur diaphysis length noted in certain races does not necessarily imply that the corresponding crown-heel length is longer. These inter-racial differences may increase the error of fetal weight and length estimates if formulae, which have been derived from samples racially dissimilar to that of the target population are used.


Asunto(s)
Antropometría/métodos , Pueblo Asiatico/genética , Largo Cráneo-Cadera , Fémur/anatomía & histología , Fémur/diagnóstico por imagen , Feto/anatomía & histología , Ultrasonografía Prenatal/métodos , Población Blanca/genética , Adolescente , Adulto , Sesgo , Peso al Nacer/genética , China/etnología , Femenino , Humanos , India/etnología , Análisis de los Mínimos Cuadrados , Modelos Lineales , Malasia/etnología , Masculino , Valor Predictivo de las Pruebas , Embarazo , Estudios Prospectivos , Reproducibilidad de los Resultados
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