Autozygosity mapping, complex consanguinity, and autosomal recessive disorders.
نویسندگان
چکیده
منابع مشابه
Low segregation ratios in autosomal recessive disorders.
ing from Murcia, Spain. She was born in 1987, without meconium ileus, and was diagnosed as having cystic fibrosis at the age of 5 months, on the basis of growth retardation, gastrointestinal problems (especially diarrhoea and steatorrhoea), and repeated bronchitis. Staphylococcus aureus then Pseudomonas aeruginosa have been found in the patient's sputum since she was 6 months old. She is treate...
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BACKGROUND Congenital microphthalmia (OMIM: 309700) may occur in isolation or in association with a variety of systemic malformations. Isolated microphthalmia may be inherited as an autosomal dominant, an autosomal recessive, or an X linked trait. METHODS Based on a whole genome linkage analysis, in a six generation consanguineous family with autosomal recessive inheritance, the first locus f...
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Development of the human brain occurs in a number of complex preand postnatal stages which are governed by both genetic and environmental factors. Aberrant brain development due to inherited defects may result in a wide spectrum of neurological disorders which are commonly encountered in the clinical field of paediatric neurology. In the work for this thesis, I have investigated the molecular b...
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The role of rare missense variants in disease causation remains difficult to interpret. We explore whether the clustering pattern of rare missense variants (MAF < 0.01) in a protein is associated with mode of inheritance. Mutations in genes associated with autosomal dominant (AD) conditions are known to result in either loss or gain of function, whereas mutations in genes associated with autoso...
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Kuwait has a cosmopolitan population of 1.7 million, mostly Arabs. This population is a mosaic of large and small minorities representing most Arab communities. In general, Kuwait's population is characterized by a rapid rate of growth, large family size, high rates of consanguineous marriages within the Arab communities with low frequency of intermarriage between them, and the presence of gene...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1993
ISSN: 1468-6244
DOI: 10.1136/jmg.30.9.798