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1.
Ann Biol Clin (Paris) ; 81(6): 621-627, 2024 02 24.
Artículo en Francés | MEDLINE | ID: mdl-38189359

RESUMEN

Since 1994, in France, bioethics law has set the regulatory framework for Medically Assisted Reproduction (MAR). The latest revision of the law of August 2, 2021, is characterized by major upheavals in the field of MAR and intervenes in several areas: the purpose and conditions to access to MAR, access to origins in the case of gamete or embryo donation, and gametes cryopreservation without medical indication. Indeed, the law authorizes, because of a strong societal demand, the extension of sperm donation to couples of women and unmarried women, as well as the possibility for any person to preserve his/her gametes if he/she meets the age criteria defined by decree. Finally, the law opens the possibility for people born following gamete or embryo donation to have access, from their 18th anniversary, to identifying and/or non-identifying data. These new measures have led to a very important number of MAR requests to fertility and donation centers, and have required the implementation of new circuits in order to harmonize care, without discrimination or prioritization.


Asunto(s)
Bioética , Técnicas Reproductivas Asistidas , Humanos , Masculino , Femenino , Destinación del Embrión , Semen , Biología
2.
Biomed Res Int ; 2020: 9396318, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33457423

RESUMEN

Hereditary hemochromatosis is an autosomal recessive disorder with incomplete penetrance that results from excess iron absorption and can lead to chronic liver disease, fibrosis, cirrhosis, and hepatocellular carcinoma. The most common form of hereditary hemochromatosis in Western Europe is due to a homozygous mutation (p.(Cys282Tyr) or C282Y), in the HFE gene which encodes hereditary haemochromatosis protein. In the general European population, the frequency of the homozygous genotype is 0.4%, and this mutation explains up to 95% of hereditary hemochromatosis in France. We report here an improved PCR and restriction endonuclease assay based on multiplex amplification of HFE exon 4 (for C282Y detection), HFE exon 2 (for H63D detection), FZD1 gene (for digestion controls), and two Short Tandem Repeats (SE33 and FGA) for identity monitoring and contamination tracking. Fluorescent primers allow capillary electrophoresis, accurate allele tagging, and sensitive contamination detection.


Asunto(s)
Proteína de la Hemocromatosis/genética , Hemocromatosis/genética , Mutación , Polimorfismo de Longitud del Fragmento de Restricción , Alelos , Codón , Electroforesis , Exones , Colorantes Fluorescentes/farmacología , Francia , Amplificación de Genes , Frecuencia de los Genes , Genotipo , Proteína de la Hemocromatosis/metabolismo , Homocigoto , Humanos , Repeticiones de Microsatélite , Reacción en Cadena de la Polimerasa , Reproducibilidad de los Resultados , Procesamiento de Señales Asistido por Computador
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