Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers

Journal Article · Sat Feb 01 04:00:00 EST 1986 · Proc. Natl. Acad. Sci. U.S.A.; (United States)

DOI:https://doi.org/10.1073/pnas.83.4.1016· OSTI ID:6155704

Oberle, I; Heilig, R; Moisan, J P; Kloepfer, C; Mattei, M G; Mattei, J F; Boue, J; Froster-Iskenius, U; Jacobs, P A; Lathrop, G M; Lalouel, J M

The fragile-X mental retardation syndrome, one of the most prevalent chromosome X-linked diseases (approx. = 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 chromosome band Xq27. The authors 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. The 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 and 0.10 for FRAXQ27-St14. 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.

• Research Organization: Centre National de la Recherche Scientifique, Strasbourg, France
• OSTI ID: 6155704
• Journal Information: Proc. Natl. Acad. Sci. U.S.A.; (United States), Journal Name: Proc. Natl. Acad. Sci. U.S.A.; (United States) Vol. 83:4; ISSN PNASA
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ANIMALS
BIOLOGICAL MATERIALS
BLOOD
BLOOD CELLS
BODY FLUIDS
CHROMOSOMES
CYTOLOGICAL TECHNIQUES
DIAGNOSIS
DISEASES
DNA
GENE RECOMBINATION
GENETIC MAPPING
HEREDITARY DISEASES
HETEROCHROMOSOMES
HYBRIDIZATION
LEUKOCYTES
MAMMALS
MAN
MAPPING
MATERIALS
MENTAL DISORDERS
NUCLEIC ACIDS
ORGANIC COMPOUNDS
PRIMATES
VERTEBRATES
X CHROMOSOME