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DNA linkage studies in the fragile X syndrome suggest genetic heterogeneity

โœ Scribed by Brown, W. Ted ;Gross, Anne C. ;Chan, Colin B. ;Jenkins, Edmund C. ;Opitz, John M. ;Reynolds, James F.


Publisher
John Wiley and Sons
Year
1986
Tongue
English
Weight
830 KB
Volume
23
Category
Article
ISSN
0148-7299

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โœฆ Synopsis


y f o r l i n k a g e between t h e fra(X) l o c u s and a f a c t o r I X DNA RFLP (Brown e t a l , 1985). When fra(X> families were predivided i n t o two classes, one c o n t a i n i n g t h o s e w i t h non-penetrant ( N P ) males and one with apparent f u l l penetrance ( P I , evidence of s i g n i f i c a n t h e t e r o g e n e i t y was present. W e have now extended t h i s a n a l y s i s by adding DNA l i n k a g e information on 2 a d d i t i o n a l probes, 52A and ST14, s t u d i e d i n 16 fra(X> kindreds. These d a t a were combined w i t h information on 16 published f r a ( X ) families. There were 7 NP families and 25 P families. W e confirmed our previous f i n d i n g s of a higher recombination f r a c t i o n between f a c t o r I X and f r a ( X > i n P families (0 = .32 with l o d of .67) compared t o as NP families (0 = .06 with l o d of 6.11) which was s i g n i f i c a n t a t p< .01.

I n comparing recombination f r a c t i o n s for t h e a d d i t i o n a l probes, more recombination between 52A and t h e o t h e r l o c i was c o n s i s t e n t l y seen i n P compared t o NP families which suggested t h a t t h e r e may be a higher rate of recombination proximal t o t h e fra(X) l o c u s i n P kindreds. A s t r i k i n g l y higher recombination f r a c t i o n between 52A and f a c t o r I X was p r e s e n t i n comparing a l l fra(X> families (. 18) t o normal families (.02) which was s i g n i f i c a n t a t p< .001.


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Linkage and genetic counselling for the
โœ Mulley, John C. ;Gedeon, Agi K. ;Thorn, Kerry A. ;Bates, Lyndall J. ;Sutherland, ๐Ÿ“‚ Article ๐Ÿ“… 1987 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 708 KB

Linkage data using the markers DXS.51, F9, DXSl.5, and DXS.52 are presented from 14 pedigrees segregating with the fragile X. Cytogenetic and DNA data were combined by twoor three-point linkage analysis for estimation of lod sc2res and carrier probabilities in potential carriers. Recombination frequ