人类16号染色体的分子遗传学
Molecular genetics of human chromosome 16.
作者信息
Sutherland G R, Reeders S, Hyland V J, Callen D F, Fratini A, Mulley J C
机构信息
Cytogenetics Unit, Adelaide Children's Hospital, South Australia.
出版信息
J Med Genet. 1987 Aug;24(8):451-6. doi: 10.1136/jmg.24.8.451.
The major diseases mapped to chromosome 16 are adult polycystic kidney disease and those resulting from mutations in the alpha globin complex. There are at least six other less important genetic diseases which map to this chromosome. The adenine phosphoribosyltransferase gene allows for selection of chromosome 16 in somatic cell hybrids and a hybrid panel is available which segments the chromosome into six regions to facilitate gene mapping. Genes which have been mapped to this chromosome or which have had their location redefined since HGM8 include APRT, TAT, MT, HBA, PKD1, CTRB, PGP, HAGH, HP, PKCB, and at least 19 cloned DNA sequences. There are RFLPs at 13 loci which have been regionally mapped and can be used for linkage studies.
定位到16号染色体的主要疾病是成人多囊肾病以及由α珠蛋白复合体突变引起的疾病。至少还有其他六种不太重要的遗传病也定位到这条染色体上。腺嘌呤磷酸核糖转移酶基因可用于在体细胞杂种中选择16号染色体，并且有一个杂种细胞系可将该染色体分成六个区域以促进基因定位。自人类基因定位第八次会议（HGM8）以来，已定位到这条染色体或重新确定其位置的基因包括APRT、TAT、MT、HBA、PKD1、CTRB、PGP、HAGH、HP、PKCB以及至少19个克隆的DNA序列。在13个位点存在限制性片段长度多态性（RFLPs），这些位点已进行区域定位，可用于连锁研究。
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