Details

Autor(en) / Beteiligte

• Knoll, Joan H.M.
• Sinnett, Daniel
• Wagstaff, Joseph
• Glatt, Karen
• Wilcox, Andrea Schantz
• Whiting, Paul M.
• Wingrove, Peter
• Sikela, James M.
• Lalande, Marc

Titel

FISH ordering of reference markers and of the gene for the α5 subunit of the γ-aminobutyric acid receptor (GABRA5) within the Angelman and Prader–Willi syndrome chromosomal regions

Ist Teil von

• Human molecular genetics, 1993-02, Vol.2 (2), p.183-189

Ort / Verlag

Oxford: Oxford University Press

Erscheinungsjahr

1993

Link zum Volltext

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• We have established a probe order within the Angelman/Prader–Willi chromosomal regions by multicolor fluorescence in situ hybridization (FISH). The probe [locus] order extending distally from the centromere is 34[D15S9]-IR4–3R[D15S11]-189–1[D15S13]-PW71 [D15S63] -3–21[D15S10] -28β3-H3[GABRB3] -IR10–1 [D15S12]. This order agrees with that recently reported (1) with the exception of PW71 [D15S63]. In addition, a second γ-aminobutyric acid (GABAA) receptor, the α5 subunit, has been localized within the reference map to between GABRB3 and D15S12. The locus order was further confirmed by DNA hybridization analysis of two patients, one with Angelman syndrome and one with Prader–Willi syndrome, with different unbalanced translocations and molecular extents of deletion. Our results provide a framework map of chromosome 15q11–q13 into which additional markers can be oriented and allow a further differentiation of the critical genetic regions of the two syndromes.