Bioinformatic parallel processing tools development for mutation identification from whole exome data following homozygosity mapping for autosomal recessive disorders

Author(s):  
Yasser Al-Sarraj ◽  
Adel Abouzehry ◽  
Hatem El-Shanti ◽  
Marios Kambouris
2015 ◽  
Vol 172 (5) ◽  
pp. 1407-1411 ◽  
Author(s):  
T. Takeichi ◽  
A. Nanda ◽  
S. Aristodemou ◽  
J.R. McMillan ◽  
J. Lee ◽  
...  

2016 ◽  
Vol 84 (1) ◽  
pp. e139
Author(s):  
Takuya Takeichi ◽  
Arti Nanda ◽  
Masashi Akiyama ◽  
Hejab Al-Ajmi ◽  
John_A. McGrath

1995 ◽  
pp. 45-53
Author(s):  
Jaakko Ignatius

The frequency of marriages contracted between individuals with close consanguinity has traditionally been low in Finland. In the 19th and early 20th centuries only 0.1-0.3% of all marriages were contracted between first-cousins (average kinship coefficient 0.0001-0.0002). In genealogical search, however, a remote consanguinity (often beyond 3rd cousins) is frequently found especially in the rural areas and the true level of inbreeding is higher. In Finland, several autosomal recessive diseases are known to be enriched in the population. This unique spectrum of genetic diseases is sometimes called »the Finnish Disease Heritage». To study the implication of close consanguinity for these disorders, information on consanguineous marriages closer than second-cousins was collected from 808 families representing 24 different »Finnish» autosomal recessive disorders. The mean rate of first-cousin marriages was 1.6% (0-20%). Consanguinity (parents second-cousins or closer) was found in 4.2% of the families. For comparison, in 160 families representing three »non-Finnish» autosomal disorders the corresponding figures were 1.9% and 2.5%, respectively. Although these figures are high when compared to the general Finnish population, it can be concluded that close consanguinity is not a significant factor of Finnish genetic diseases.


Author(s):  
Nilesh J. Samani ◽  
Maciej Tomaszewski

Several mendelian disorders with hypertension as the predominant manifestation have been characterized at the molecular level. Features that may suggest one of these very rare conditions include a young age of onset, moderate to severe hypertension, strong family history, consanguinity (for the autosomal recessive disorders), and electrolyte abnormalities, particularly of potassium (although this is not invariable)....


Author(s):  
Maria Laura Iezzi ◽  
Gaia Varriale ◽  
Luca Zagaroli ◽  
Stefania Lasorella ◽  
Marco Greco ◽  
...  

AbstractCongenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency represents a group of autosomal recessive disorders characterized by impaired cortisol production due to altered upstream steroid conversions, subclassified as classic and nonclassic forms. The genotype–phenotype correlation is possible in the most frequent case but not in all. Despite in literature many mutations are known, there is the possibility of finding a new genetic pattern in patients with CAH.


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