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Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Mattei, Géraldine Mattéi, Jean François Boué, Joelle Froster-Iskenius, Ursula |
| Copyright Year | 1986 |
| Abstract | The fragile-X mental retardation syndrome, one of the most prevalent chromosome X-linked diseases (approximately equal to 1 of 2000 newborn males), is characterized by the presence in affected males and in a portion of carrier females of a fragile site at chromosomes band Xq27. We have performed a linkage analysis in 16 families between the locus for the fragile-X syndrome, FRAXQ27, and two polymorphic DNA markers that correspond to the anonymous probe St14 and to the coagulation factor IX gene F9. Our results indicate that the order of loci is centromere-F9-FRAXQ27-St14-Xqter. The estimate of the recombination fraction for the linkage F9-FRAXQ27 is 0.12 (90% confidence limits: 0.044-0.225) and 0.10 for FRAXQ27-St14 (90% confidence limits: 0.040-0.185). Recombination between St14 and F9 does not appear to be significantly different in normal and fragile-X families. The two flanking probes were used for diagnosis of the carrier state and for detection of transmission of the disease through phenotypically normal males. They should also allow first-trimester diagnosis with a reliability of about 98% in 40% of the families. Used in conjunction with the cytogenetic analysis, the segregation studies with both probes should improve the genetic counseling for the fragile-X syndrome and should be useful for the formal genetic analysis of this unique disease. |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | http://www.pnas.org/content/83/4/1016.full.pdf |
| PubMed reference number | 3006023v1 |
| Volume Number | 83 |
| Issue Number | 4 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | Centromere Chromosome Fragile Sites Chromosomes Confidence Limit Congenital chromosomal disease Cri-du-Chat Syndrome Cytogenetic Analysis F Factor Flank (surface region) Hereditary Diseases Infant, Newborn Mental Retardation Recombination Fraction Stiff-Person Syndrome X-Linked Lymphoproliferative Disorder Xq27 genetic linkage matriptase |
| Content Type | Text |
| Resource Type | Article |
