THRA1和D17S183位于17号染色体q21区域的乳腺癌-卵巢癌基因（BRCA1）两侧，间隔小于4厘摩。
THRA1 and D17S183 flank an interval of < 4 cM for the breast-ovarian cancer gene (BRCA1) on chromosome 17q21.
作者信息
Bowcock A M, Anderson L A, Friedman L S, Black D M, Osborne-Lawrence S, Rowell S E, Hall J M, Solomon E, King M C
机构信息
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas.
出版信息
Am J Hum Genet. 1993 Apr;52(4):718-22.
In order to pinpoint the locale of the gene for early-onset familial breast and ovarian cancer (BRCA1), polymorphisms were developed within the locus for thyroid hormone receptor alpha (THRA1) and for several anonymous sequences at chromosome 17q12-q21. The THRA1 polymorphism is a dinucleotide repeat with 10 alleles and heterozygosity.79. Gene mapping in extended families with inherited, early-onset breast and ovarian cancer indicates that BRCA1 is distal to THRA1 and proximal to D17S183 (SCG43), an interval of < 4 cM. This locale excludes HER2, THRA1, WNT3, HOX2, NGFR, PHB, COLIA1, NME1, and NME2 as candidates for BRCA1 but does not exclude RARA or EDH17B. Resolving the remaining recombination events in these families by new polymorphisms in the THRA1-D17S183 interval will facilitate positional cloning of the breast-ovarian cancer gene on chromosome 17q12-q21.
为了确定早发性家族性乳腺癌和卵巢癌（BRCA1）基因的位置，在甲状腺激素受体α（THRA1）基因座以及17号染色体q12 - q21区域的几个无名序列内开发了多态性标记。THRA1多态性是一种具有10个等位基因且杂合度为0.79的二核苷酸重复序列。对患有遗传性早发性乳腺癌和卵巢癌的大家庭进行基因定位研究表明，BRCA1基因位于THRA1基因座的远端以及D17S183（SCG43）基因座的近端，二者之间的间距小于4厘摩。该区域排除了HER2、THRA1、WNT3、HOX2、NGFR、PHB、COLIA1、NME1和NME2作为BRCA1候选基因的可能性，但并未排除RARA或EDH17B。通过THRA1 - D17S183区间内的新多态性标记来解析这些家族中剩余的重组事件，将有助于对17号染色体q12 - q21区域的乳腺癌 - 卵巢癌基因进行定位克隆。
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