scholarly journals Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping

1999 ◽  
Vol 64 (1) ◽  
pp. 126-135 ◽  
Author(s):  
Bru Cormand ◽  
Kristiina Avela ◽  
Helena Pihko ◽  
Pirkko Santavuori ◽  
Beril Talim ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Disease Gene ◽  
Homozygosity Mapping ◽  
Brain Disease

scholarly journals Localization of the Netherton Syndrome Gene to Chromosome 5q32, by Linkage Analysis and Homozygosity Mapping

2000 ◽  
Vol 66 (3) ◽  
pp. 914-921 ◽  
Author(s):  
Stéphane Chavanas ◽  
Chad Garner ◽  
Christine Bodemer ◽  
Mohsin Ali ◽  
Dominique Hamel- Teillac ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Homozygosity Mapping ◽  
Netherton Syndrome

scholarly journals Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

PLoS Genetics ◽  
2010 ◽  
Vol 6 (6) ◽  
pp. e1000991 ◽  
Author(s):  
Nara L. M. Sobreira ◽  
Elizabeth T. Cirulli ◽  
Dimitrios Avramopoulos ◽  
Elizabeth Wohler ◽  
Gretchen L. Oswald ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Disease Gene ◽  
Mendelian Disease ◽  
Whole Genome

scholarly journals Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly

Blood ◽  
2011 ◽  
Vol 117 (12) ◽  
pp. 3430-3434 ◽  
Author(s):  
Shay Fabbro ◽  
Walter H. A. Kahr ◽  
Jesse Hinckley ◽  
Kai Wang ◽  
Jack Moseley ◽  
...  
Keyword(s):  
Native American ◽  
Linkage Analysis ◽  
Critical Region ◽  
Autosomal Recessive ◽  
Homozygosity Mapping ◽  
Affected Patient ◽  
Pakistani Origin ◽  
Recessive Locus ◽  
Gray Platelet Syndrome ◽  
Autosomal Recessive Manner

Abstract Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by thrombocytopenia and the absence of α-granules in platelets. Patients with GPS present with mild to moderate bleeding and many develop myelofibrosis. The genetic cause of GPS is unknown. We present 2 Native American families with a total of 5 affected persons and a single affected patient of Pakistani origin in which GPS appears to be inherited in an autosomal recessive manner. Homozygosity mapping using the Affymetrix 6.0 chips demonstrates that all 6 GPS-affected persons studied are homozygous for a 1.7-Mb region in 3p21. Linkage analysis confirmed the region with a logarithm of the odds score of 2.7. Data from our families enabled us to significantly decrease the size of the critical region for GPS from the previously reported 9.4-Mb region at 3p21.

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