环状D染色体：与异常触珠蛋白遗传相关的第二例病例。
Ring D chromosome: a second case associated with anomalous haptoglobin inheritance.
作者信息
Bloom G E, Gerald P S, Reisman L E
出版信息
Science. 1967 Jun 30;156(3783):1746-8. doi: 10.1126/science.156.3783.1746.
PMID:5611035
Abstract
A second child with a ring D chromosome and anomalous inheritance of haptoglobin has been identified. Autoradiographic studies of peripheral lymphocytes from this child and of those from the previously described patient indicate that the ring in each is derived from chromosome No. 13. These findings are evidence that the locus for the haptoglobin alpha-chain is situated on one end of chromosome No. 13.
摘要
已发现第二例患有环状D染色体且触珠蛋白遗传异常的儿童。对该儿童及先前描述患者的外周淋巴细胞进行的放射自显影研究表明，二者的环状染色体均源自13号染色体。这些发现证明，触珠蛋白α链基因座位于13号染色体的一端。
相似文献
1
Ring D chromosome: a second case associated with anomalous haptoglobin inheritance.环状D染色体：与异常触珠蛋白遗传相关的第二例病例。
Science. 1967 Jun 30;156(3783):1746-8. doi: 10.1126/science.156.3783.1746.
2
Aberrant serum protein inheritance in a patient with a ring D chromosome.
Pediatrics. 1970 Jul;46(1):120-3.
3
Ring 13 chromosome with normal haptoglobin inheritance.13号环状染色体伴正常触珠蛋白遗传。
J Med Genet. 1971 Jun;8(2):222-6. doi: 10.1136/jmg.8.2.222.
4
Ring chromosome 13 and haptoglobin heterozygosity.13号环状染色体与触珠蛋白杂合性
Clin Genet. 1973;4(1):25-7. doi: 10.1111/j.1399-0004.1973.tb01117.x.
5
Familial deletion of the short arm of the D1-chromosome (46, XX, 13 p-) not associated with loss of haptoglobin or catalase activity.与触珠蛋白或过氧化氢酶活性丧失无关的D1染色体短臂家族性缺失（46, XX, 13 p-）
Clin Pediatr (Phila). 1969 Aug;8(8):453-8. doi: 10.1177/000992286900800808.
6
Data on haptoglobin and the D group chromosomes.
Ann Hum Genet. 1969 Oct;33(2):125-36. doi: 10.1111/j.1469-1809.1969.tb01639.x.
7
A ring D chromosome and anomalous inheritance of haptoglobin type.一条环状D染色体与触珠蛋白类型的异常遗传
J Pediatr. 1967 Feb;70(2):172-9. doi: 10.1016/s0022-3476(67)80411-6.
8
9
Heritable fragile site on chromosome 16: probable localization of haptoglobin locus in man.16号染色体上的遗传性脆性位点：人触珠蛋白基因座的可能定位。
Science. 1970 Oct 2;170(3953):85-7. doi: 10.1126/science.170.3953.85.
10
[Autoradiographic studies of human chromosomes. VII. 5 cases of familial t(DqDq)].[人类染色体的放射自显影研究。VII. 5例家族性t（DqDq）]
Ann Genet. 1970 Mar;13(1):19-37.
引用本文的文献
1
Haptoglobin phenotypes in a group of mental retardates.一组智力迟钝者的触珠蛋白表型
Indian J Pediatr. 1982 Sep-Oct;49(400):659-64. doi: 10.1007/BF02752648.
2
Localization of genes on chromosome 13: analysis of two kindreds.13号染色体上基因的定位：对两个家系的分析
Am J Hum Genet. 1968 Nov;20(6):495-511.
3
[Observation of the 13-15 chromosome group in a ring (46,XY,15r)].[环状（46,XY,15r）中13 - 15号染色体组的观察]
Humangenetik. 1971;11(4):295-9. doi: 10.1007/BF00278656.
4
D1 ring chromosome in newborn with peculiar face, polydactyly, imperforate anus, arrhinencephaly, and other malformations.患有特殊面容、多指（趾）畸形、肛门闭锁、无脑回及其他畸形的新生儿中的D1环状染色体。
J Med Genet. 1970 Dec;7(4):399-401. doi: 10.1136/jmg.7.4.399.
5
Absent IgA and deletions of chromosome 18.IgA缺乏及18号染色体缺失。
J Med Genet. 1970 Mar;7(1):11-9. doi: 10.1136/jmg.7.1.11.
6
Dq-, Dr and retinoblastoma.Dq-、Dr与视网膜母细胞瘤
Humangenetik. 1970;10(3):209-17. doi: 10.1007/BF00295782.
7
The 13q-deletion syndrome.13q缺失综合征
Am J Hum Genet. 1969 Sep;21(5):499-512.
8
Retinoblastoma and deletion D (14) syndrome.视网膜母细胞瘤与14号染色体长臂缺失综合征
J Med Genet. 1969 Sep;6(3):322-7. doi: 10.1136/jmg.6.3.322.
9
The 13q- deletion syndrome.13q-缺失综合征
J Med Genet. 1971 Sep;8(3):351-7. doi: 10.1136/jmg.8.3.351.
10
Ring 13 chromosome with normal haptoglobin inheritance.13号环状染色体伴正常触珠蛋白遗传。
J Med Genet. 1971 Jun;8(2):222-6. doi: 10.1136/jmg.8.2.222.
Zotero 插件