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頁籤選單縮合
題名 | Molecular Analysis and Prenatal Diagnosis of β-Thalassemia in Taiwanese: A Current Status Review=乙型海洋性貧血的基因突變型研究和產前診斷--現狀回顧 |
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作者 | 柯滄銘; | 書刊名 | 中華民國婦產科醫學會會刊雜誌 |
卷期 | 37:3 1998.09[民87.09] |
頁次 | 頁73-80 |
分類號 | 415.513 |
關鍵詞 | 乙型海洋性貧血; 突變型; 產前診斷; 遺傳諮詢; Molecular characterization; β-thalassemia; Prenatal diagnosis; Genetic counseling; |
語文 | 英文(English) |
中文摘要 | 乙型海洋性貧血是臺灣常見的一種體染色體隱性遺傳疾病。患者需要一輩子的輸 血,注射排鐵劑或者骨髓移植。由於分子生物學的進步,本症的產前診斷可以順利進行。本 文報告我國在乙型海洋性貧血的分子生物學研究,帶因者篩檢以及產前診斷的現況。乙型海 洋性貧血的帶因者和甲型海洋性貧血的帶因者其血球體積較小,每顆紅血球之內的血紅素較 少,但乙型的帶因者通常其 HbA2 會明顯偏高,HbF 也可能升高。 測定 HbA2 和 HbF 的濃 度是區別乙型帶因者和甲型帶因者或缺鐵性貧血的一種很好的方法。 要精確定量 HbA2 和 HbF 應該使用高層次液相色層分析法( HPLC ),很可惜很多檢驗室仍然使用醋酸纖維膜電 泳法測定 HbA2。 電泳法大約有 10 % 的誤差,而且無法精確定量 HbF,已有一些個案因此 而誤診。要檢查乙型海洋性貧血的基因型,目前最常使用的是利用核酸聚合酵素連鎖反應( PCR )為基礎的種種診斷方法, 例如 analysis of amplification created restriction site, heteroduplex analysis, single strand conformation analysis, gap-PCR, 和直 接序列分析等。 迄今在臺灣總共有 17 種不同的突變型被發現,其中最常見的 4 種,IVS- Ⅱ -654(C → T), codons 41/42(-TCTT),codon 17(A → T),和 -28 (A → G),佔了所 有突變型的 90% 以上。 為了防止此類患者的出現,我國自6年前即開始推行孕婦地中海型 貧血篩檢網路,其最終目的是利用產前診斷以防止重型胎兒的出生。產前診斷可以利用絨毛 採樣、羊膜穿刺和抽取胎兒臍血, 以獲得胎兒的 DNA,然後利用上述的種種 PCR 相關技術 檢查胎兒是否罹病。 迄今國內總共針對 400 例高危險群孕婦進行產前診斷,得到不錯的成 果。十年前我國每年大約有 30 例新患者出現,最近三年來每年新增個案約在5例左右。為 了能夠進一步減少患童的出生,檢驗室應該強化檢查的方法,婦產科醫師和民眾應該對本症 有更清楚的了解。希望在不久的將來,我國也會跟歐洲一些國家如薩丁尼亞等不會出現新的 病患。 |
英文摘要 | β-Thalassemia is a common autosomal recessive disease in Taiwan. Patients with the disease require life-long blood transfusions, iron chelation therapy, and bone marrow transplantation. With the advent of molecular biology, prenatal diagnosis of the disease is feasible. This review is to summarize the current status of molecular study, carrier screening and prenatal diagnosis of β - thalassemia in Taiwanese. As α -thalassemia carriers, β -thalassemia carriers show microcytosis and hypochromia. To differentiate β -thalassemia from α -thalassemia carriers and subjects with iron deficiency anemia, elevated Hb A2 and/or Hb F levels are the most sensitive and specific markers. To accurately quantify Hb A2 and Hb F simultaneously, we should use high performance liquid chromatography rather than cellulose acetate membrane electrophoresis. To determine the molecular defects, various polymerase chain reaction (PCR)-mediated methods, such as analysis of amplification restriction site, heteroduplex analysis, single strand conformation analysis, gap-PCR, direct sequencing, can be used. Eighteen different β -thalassemia mutations have been reported in Taiwanese. Four mutations, IVS- Ⅱ -654 (C → T), codons 41/42 frameshift (-TCTT), nonsense codon 17(A → T) and -28(A → G), account for more than 90% of mutant alleles. In order to eliminate the disease from Taiwan, a national screening program incorporating hematological and molecular biological methods for thalassemia detection in pregnant women has been in place since 1992. For prenatal diagnosis, chorionic villus sampling, amniocentesis and fetal blood sampling can be used to obtain fetal DNA. The aforementioned PCR methods and restriction fragment polymorphism analysis are used for genotyping or tracking of the mutant alleles. There have been 400 prenatal tests performed on women at high risk of giving birth to newborns affected with β -thalassemia major. A 70% decrease in the number of new patients in the past three years has been seen. Correct classification of subjects with microcytosis and hypochromia, and a higher awareness of the disease by physicians and the general public are critical for eventual eradication of the disease in Taiwan. |
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