Linkage studies between polymorphic markers on chromosome 4 and cystic fibrosis

1985 ◽  
Vol 69 (3) ◽  
pp. 250-254 ◽  
Author(s):  
P. Scambler ◽  
T. Robbins ◽  
C. Gilliam ◽  
A. Boylston ◽  
P. Tippett ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Polymorphic Markers ◽  
Chromosome 4 ◽  
Linkage Studies

Genetic map of 16 polymorphic markers forming three linkage groups assigned to rat Chromosome 4

1995 ◽  
Vol 6 (7) ◽  
pp. 459-463 ◽  
Author(s):  
E. A. Goldmuntz ◽  
E. F. Remmers ◽  
Y. Du ◽  
H. Zha ◽  
P. Mathern ◽  
...  
Keyword(s):  
Genetic Map ◽  
Polymorphic Markers ◽  
Chromosome 4 ◽  
Linkage Groups

scholarly journals O-075. Multiplex PCR of polymorphic markers flanking the CFTR gene: a general approach for pre-implantation genetic diagnosis of cystic fibrosis

1999 ◽  
Vol 14 (Suppl_3) ◽  
pp. 41-42 ◽  
Author(s):  
J.C.F.M. Dreesen ◽  
L.J.A.M. Jacobs ◽  
M. Bras ◽  
H.J.M. Smeets ◽  
J. Herbergs ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Multiplex Pcr ◽  
Genetic Diagnosis ◽  
Cftr Gene ◽  
Polymorphic Markers

Haplotype Distribution of and Linkage Disequilibrium Between Four Polymorphic Markers Near the CFTR Locus in Brazilian Cystic Fibrosis Patients

Human Biology ◽  
2005 ◽  
Vol 77 (6) ◽  
pp. 853-865 ◽  
Author(s):  
Giselda M. K. Cabello ◽  
Pedro H. Cabello ◽  
Jorge S. Lopez-Camelo ◽  
Juan C. Llerena ◽  
Octavio Fernandes
Keyword(s):  
Cystic Fibrosis ◽  
Linkage Disequilibrium ◽  
Polymorphic Markers ◽  
Haplotype Distribution

scholarly journals The genetic background of osteoporosis in cystic fibrosis: Association analysis with polymorphic markers in four candidate genes

2006 ◽  
Vol 5 (4) ◽  
pp. 229-235 ◽  
Author(s):  
Carlo Castellani ◽  
Giovanni Malerba ◽  
Antonella Sangalli ◽  
Antonella Delmarco ◽  
Elena Petrelli ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Candidate Genes ◽  
Association Analysis ◽  
Genetic Background ◽  
Polymorphic Markers

scholarly journals Linkage to the CCM2 Locus and Genetic Heterogeneity in Familial Cerebral Cavernous Malformation

2003 ◽  
Vol 30 (2) ◽  
pp. 122-128 ◽  
Author(s):  
Nicolas Dupré ◽  
Dominique J. Verlaan ◽  
Collette K. Hand ◽  
Sandra B. Laurent ◽  
Gustavo Turecki ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Genetic Heterogeneity ◽  
High Performance ◽  
Cavernous Malformation ◽  
Gene Mutations ◽  
Cerebral Cavernous Malformation ◽  
Polymorphic Markers ◽  
Linkage Studies ◽  
Lod Score ◽  
Familial Cerebral Cavernous Malformation

ABSTRACT:Background:Cerebral cavernous malformation (CCM) is a form of intracranial vascular disease that may arise sporadically or be dominantly inherited. Linkage studies have revealed genetic heterogeneity among the dominantly inherited forms suggesting the existence of at least three loci called CCM1, CCM2 and CCM3.Methods:In the present study, we screened five families with dominantly inherited CCM for CCM1 gene mutations with denaturing high performance liquid chromatography (DHPLC). Then, we performed linkage analysis and haplotyping on these five families using highly polymorphic markers at the candidate CCM loci.Results:None of the five families tested with DHPLC were found to have mutations in the CCM1 gene. Based on haplotyping, we identified three families segregating alleles for CCM2, while two families segregated alleles for CCM3. Using linkage analysis, we could confirm that one family (IFCAS-1) had a positive Lod score of 2.03 (p<0.0001) at the CCM2 locus using marker D7S678.Conclusions:The present study is the first one to replicate linkage at the CCM2 locus and provides a fifth family identified as such. It also supports the concept of genetic heterogeneity in CCM, identifying four other families that showed no mutations in the CCM1 gene.

Map of seven polymorphic markers on rat Chromosome 14: linkage conservation with human Chromosome 4

1993 ◽  
Vol 4 (2) ◽  
pp. 90-94 ◽  
Author(s):  
Elaine F. Remmers ◽  
Ellen A. Goldmuntz ◽  
Joseph M. Cash ◽  
Hongbin Zha ◽  
Leslie J. Crofford ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Polymorphic Markers ◽  
Chromosome 4 ◽  
Chromosome 14 ◽  
Human Chromosome 4 ◽  
Linkage Conservation

Linkage studies in blood biochemical polymorphic markers of rabbits

2009 ◽  
Vol 18 (3) ◽  
pp. 257-260
Author(s):  
C. RODELLAR ◽  
P. ZARAGOZA ◽  
I. ZARAZAGA ◽  
B. AMORENA
Keyword(s):  
Polymorphic Markers ◽  
Linkage Studies ◽  
Blood Biochemical
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