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小鼠6号染色体远端聋摇尾区域的物理图谱和遗传图谱。

Physical and genetic maps of the deafwaddler region on distal mouse Chr 6.

作者信息

McKee-Johnson J W, Street V A, Erford S K, Robinson L C, Tempel B L

机构信息

V. M. Bloedel Hearing Research Center, Department of Otolaryngology, University of Washington School of Medicine, Seattle 98195, USA.

出版信息

Genomics. 1998 May 1;49(3):371-7. doi: 10.1006/geno.1998.5274.

Abstract

The deafwaddler (dfw) mutation, displaying motor ataxia and profound deafness, arose spontaneously in a C3H/HeJ colony and was mapped previously to distal mouse Chr 6. In this study, a high-resolution genetic map was generated by positioning 10 microsatellite markers and 5 known genes on a 968-meioses intersubspecific backcross segregating for dfw [(CAST/Ei(-)+/+ x C3HeB/ FeJ-dfw/dfw) x C3HeB/FeJ-dfw/dfw], giving the following marker order and sex-averaged distances: D6Mit64-(0.10 + 0.10 cM)-Pang-(1.24 + 0.36 cM)-Itpr1-(0.62 + 0.25 cM)-D6Mit108-(0.52 + 0.23 cM)-D6Mit54-(0.21 + 0.15 cM)-D6Mit23, D6Mit107, D6Mit328-(0.72 + 0.27 cM)-D6Mit11-(0.21 + 0.15 cM)-dfw-(0.93 + 0.31 cM)-Gat4, D6Mit55-(0.10 + 0.10 cM)-D6Mit63-(0.31 + 0.18 cM)-Syn2-(0.62 + 0.25 cM)-D6Mit44 (Rho). Female and male genetic maps are similar immediately surrounding the dfw locus, but show marked differences in other areas. A yeast artificial chromosome-based physical map suggests that the closest markers flanking the dfw locus, D6Mit11 (proximal) and Gat4, D6Mit55 (distal), are contained within 650-950 kb. The human homologues of the flanking loci Itpr1 (proximal) and Syn2 (distal) map to chromosome 3p25-p26, suggesting that the human homologue of the dfw gene is located within this same region.

摘要

聋摇踵(dfw)突变表现为运动性共济失调和严重耳聋,它在一个C3H/HeJ群体中自发产生,之前被定位到小鼠6号染色体远端。在本研究中,通过在一个968次减数分裂的种间回交群体【(CAST/Ei(-)+/ +×C3HeB/FeJ - dfw/dfw)×C3HeB/FeJ - dfw/dfw】中定位10个微卫星标记和5个已知基因,构建了一个高分辨率遗传图谱,得到以下标记顺序和性别平均距离:D6Mit64 -(0.10±0.10 cM)- Pang -(1.24±0.36 cM)- Itpr1 -(0.62±0.25 cM)- D6Mit108 -(0.52±0.23 cM)- D6Mit54 -(0.21±0.15 cM)- D6Mit23、D6Mit107、D6Mit328 -(0.72±0.27 cM)- D6Mit11 -(0.21±0.15 cM)- dfw -(0.93±0.31 cM)- Gat4、D6Mit55 -(0.10±0.10 cM)- D6Mit63 -(0.31±0.18 cM)- Syn2 -(0.62±0.25 cM)- D6Mit44(Rho)。在dfw基因座紧邻区域,雌性和雄性遗传图谱相似,但在其他区域显示出明显差异。基于酵母人工染色体的物理图谱表明,位于dfw基因座两侧最近的标记,近端的D6Mit11和远端的Gat4、D6Mit55,包含在650 - 950 kb范围内。侧翼基因座Itpr1(近端)和Syn2(远端)的人类同源基因定位于染色体3p25 - p26,这表明dfw基因的人类同源基因位于同一区域。

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